A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704999



Internal ID15094965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218822874..218833281hg38UCSC Ensembl
Innerchr2:219687597..219698004hg19UCSC Ensembl
Innerchr2:219395841..219406248hg18UCSC Ensembl
Innerchr2:219513102..219523509hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3810408
hg1910408
hg1810408
hg1710408
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528407
Supporting Variants
Samples
Known GenesPRKAG3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704999
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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