A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982083



Internal ID55413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35050519..35050535hg38UCSC Ensembl
chr6:35018296..35018312hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543228
Supporting Variants
Samples
Known GenesANKS1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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