A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965771



Internal ID44504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60675531..60675660hg38UCSC Ensembl
chr5:59971358..59971487hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455223
Supporting Variants
Samples
Known GenesDEPDC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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