A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678756



Internal ID15068722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219404753..219565481hg38UCSC Ensembl
Innerchr2:220269475..220430203hg19UCSC Ensembl
Innerchr2:219977719..220138447hg18UCSC Ensembl
Innerchr2:220094980..220255708hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38160729
hg19160729
hg18160729
hg17160729
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)nssv678756
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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