A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706146



Internal ID129812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19722046..19722441hg38UCSC Ensembl
chr16:19733368..19733763hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517703
Supporting Variants
Samples
Known GenesIQCK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706146
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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