A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215099



Internal ID20782139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140758301..140905800hg38UCSC Ensembl
chr5:140137886..140285385hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38147500
hg19147500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407938
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215099
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0008


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