A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520227



Internal ID15100834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176035362..176108354hg38UCSC Ensembl
Innerchr2:176900090..176973082hg19UCSC Ensembl
Innerchr2:176608336..176681328hg18UCSC Ensembl
Innerchr2:176725597..176798589hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3872993
hg1972993
hg1872993
hg1772993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678754, nssv686873, nssv688885, nssv662017
Samples
Known GenesEVX2, HOXD11, HOXD12, HOXD13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520227
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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