A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709859



Internal ID133525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81643588..81648582hg38UCSC Ensembl
chr16:81677193..81682187hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg384995
hg194995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532168
Supporting Variants
Samples
Known GenesCMIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709859
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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