A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692003



Internal ID15428655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:14565266..14569487hg38UCSC Ensembl
Innerchr2:14705390..14709611hg19UCSC Ensembl
Innerchr2:14622841..14627062hg18UCSC Ensembl
Innerchr2:14655988..14660209hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg384222
hg194222
hg184222
hg174222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516976
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692003
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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