A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706684



Internal ID130350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1450693..1450925hg38UCSC Ensembl
chr16:1500694..1500926hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523690
Supporting Variants
Samples
Known GenesCLCN7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706684
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.081268


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