A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515605



Internal ID15443216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73632057..73689545hg38UCSC Ensembl
Innerchr2:73859184..73916672hg19UCSC Ensembl
Innerchr2:73712692..73770180hg18UCSC Ensembl
Innerchr2:73770839..73828327hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3857489
hg1957489
hg1857489
hg1757489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666397, nssv671126, nssv688998, nssv656400, nssv676220, nssv654323, nssv665127, nssv674834, nssv664064, nssv692940, nssv682451, nssv677322, nssv671399, nssv662360, nssv689041, nssv685874, nssv663078, nssv663286, nssv666878, nssv659750, nssv661910, nssv678145, nssv661684, nssv655005, nssv689674, nssv684696, nssv665174, nssv667267, nssv691115
Samples
Known GenesALMS1P, NAT8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515605
Frequency
Sample Size2026
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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