A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053348



Internal ID103416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123060985..123061121hg38UCSC Ensembl
chr11:122931693..122931829hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508981
Supporting Variants
Samples
Known GenesHSPA8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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