A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708656



Internal ID132322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:77677949..78219248hg38UCSC Ensembl
chr16:77711846..78253145hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38541300
hg19541300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533577
Supporting Variants
Samples
Known GenesCLEC3A, NUDT7, VAT1L, WWOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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