A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047853



Internal ID99764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62504574..62530774hg38UCSC Ensembl
chr11:62272046..62298246hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3826201
hg1926201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507225
Supporting Variants
Samples
Known GenesAHNAK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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