A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682266



Internal ID15072232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219420587..219565481hg38UCSC Ensembl
Innerchr2:220285309..220430203hg19UCSC Ensembl
Innerchr2:219993553..220138447hg18UCSC Ensembl
Innerchr2:220110814..220255708hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38144895
hg19144895
hg18144895
hg17144895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520958
Supporting Variants
Samples
Known GenesASIC4, CHPF, DES, GMPPA, LOC100996693, MIR3132, OBSL1, SPEG, TMEM198
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682266
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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