A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968687



Internal ID46443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83301437..83314818hg38UCSC Ensembl
chr5:82597256..82610637hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3813382
hg1913382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465243
Supporting Variants
Samples
Known GenesXRCC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968687
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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