A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520789



Internal ID15101396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11118941..11172098hg38UCSC Ensembl
Innerchr2:11259067..11312224hg19UCSC Ensembl
Innerchr2:11176518..11229675hg18UCSC Ensembl
Innerchr2:11209665..11262822hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3853158
hg1953158
hg1853158
hg1753158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685641, nssv680709, nssv675444, nssv679228
Samples
Known GenesC2orf50, FLJ33534, PQLC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520789
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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