A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707698



Internal ID131364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30556439..30561776hg38UCSC Ensembl
chr16:30567760..30573097hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385338
hg195338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520109
Supporting Variants
Samples
Known GenesZNF764
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707698
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000165


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