A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520958



Internal ID8415233
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702977, nssv678756, nssv703284, nssv682266
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)nsv520958
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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