Product Details

Assay Reference Genome Location: Chr.10:53807775 on build GRCh38
Cytoband: 10q21.1
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 65217
Gene Symbol: PCDH15
Gene Name: protocadherin related 15
Gene Aliases: CDHR15, DFNB23, USH1F
Location: Chr.10:53802771-55629182 on build GRCh38
Assay Gene Location: Within Intron 47

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
PCDH15	NM_001142771.1			NP_001136243.1
	NM_001142772.1			NP_001136244.1
	XM_017016571.1			XP_016872060.1
	XM_017016572.1			XP_016872061.1
	EU718482.1

Target Copy Number Variation Details

DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1041917	Chr10:52741572 - 55682853 on Build GRCh38	Loss	MTRNR2L5 MIR548F1 LOC105378311 PCDH15 MBL2
esv2750962	Chr10:52972795 - 55555375 on Build GRCh38	Loss	MIR548F1 LOC105378311 PCDH15
dgv861n100	Chr10:53792127 - 53821891 on Build GRCh38	Loss	PCDH15
esv2759753	Chr10:53597376 - 53827170 on Build GRCh38	Loss	PCDH15
dgv1146n54	Chr10:53034448 - 54727838 on Build GRCh38	Loss	MIR548F1 LOC105378311 PCDH15

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