A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693344



Internal ID117010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80002106..81900000hg38UCSC Ensembl
chr13:80576241..82474135hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381897895
hg191897895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143105
Supporting Variants
Samples
Known GenesLINC01080, SPRY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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