A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702977



Internal ID15092943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219535229..219565481hg38UCSC Ensembl
Innerchr2:220399951..220430203hg19UCSC Ensembl
Innerchr2:220108195..220138447hg18UCSC Ensembl
Innerchr2:220225456..220255708hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3830253
hg1930253
hg1830253
hg1730253
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520958
Supporting Variants
Samples
Known GenesASIC4, CHPF, MIR3132, OBSL1, TMEM198
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702977
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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