A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695112



Internal ID15431764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134228343..134231854hg38UCSC Ensembl
Innerchr2:134985914..134989425hg19UCSC Ensembl
Innerchr2:134702384..134705895hg18UCSC Ensembl
Innerchr2:134819646..134823157hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg383512
hg193512
hg183512
hg173512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522332
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695112
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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