A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517968



Internal ID15098575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176072106..176147850hg38UCSC Ensembl
Innerchr2:176936834..177012578hg19UCSC Ensembl
Innerchr2:176645080..176720824hg18UCSC Ensembl
Innerchr2:176762341..176838085hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3875745
hg1975745
hg1875745
hg1775745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695380
Samples
Known GenesEVX2, HOXD10, HOXD11, HOXD12, HOXD13, HOXD8, HOXD9, HOXD-AS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517968
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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