Assay Details
Target Gene Details
Entrez Gene ID: | 283120 |
Gene Name: | H19, imprinted maternally expressed transcript (non-protein coding) |
Gene Aliases: |
ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, WT2 |
Location: |
Chr.11:1995176-2001466 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
H19 | NR_002196.2 | 1 | 818 | |
NR_131223.1 | 1 | 818 | ||
NR_131224.1 | ||||
AK056774.1 | 2 | 562 | ||
AK092486.1 | ||||
AK311497.1 | ||||
AL546946.3 | 1 | 778 | ||
AL548405.3 | 1 | 778 | ||
CN424819.1 |
Target Gene Details
Entrez Gene ID: | 6150 |
Gene Name: | mitochondrial ribosomal protein L23 |
Gene Aliases: |
L23MRP, RPL23, RPL23L |
Location: |
Chr.11:1947272-2013176 on Build GRCh38 |
Assay Gene Location: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MRPL23 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1047474 | Chr.11:1803515 - 2043381 on Build GRCh38 | Gain | HOTS TNNI2 MIR7847 SYT8 LINC01219 TNNT3 SNORD131 MIR4298 LINC01150 MRPL23-AS1 MRPL23 MIR675 LSP1 H19 |
dgv1016n100 | Chr.11:1946041 - 2043381 on Build GRCh38 | Gain | HOTS SNORD131 LINC01219 MRPL23-AS1 MRPL23 MIR675 H19 |
nsv553064 | Chr.11:1943082 - 2001669 on Build GRCh38 | Loss | HOTS SNORD131 LINC01219 MRPL23-AS1 MRPL23 MIR675 H19 |
nsv469926 | Chr.11:1813024 - 2036416 on Build GRCh38 | Loss | HOTS TNNI2 MIR7847 SYT8 LINC01219 TNNT3 SNORD131 MIR4298 LINC01150 MRPL23-AS1 MRPL23 MIR675 LSP1 H19 |
nsv951283 | Chr.11:1913571 - 2040070 on Build GRCh38 | Deletion | HOTS SNORD131 LINC01219 MRPL23-AS1 TNNT3 MRPL23 MIR675 H19 |
esv29980 | Chr.11:1820597 - 2097889 on Build GRCh38 | Loss | HOTS TNNI2 MIR7847 SYT8 LINC01219 TNNT3 SNORD131 MIR4298 LINC01150 MRPL23-AS1 MRPL23 MIR675 LSP1 H19 |
nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain | TNNI2 LINC01219 TSSC4 IGF2-AS TNNT3 CD81 IFITM10 TH MIR4686 MRPL23-AS1 TSPAN32 INS MRPL23 ASCL2 MIR675 H19 HOTS MIR7847 INS-IGF2 MIR483 SYT8 TRPM5 CTSD CD81-AS1 SNORD131 MIR4298 LINC01150 C11orf21 IGF2 LSP1 |