A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522806



Internal ID15450099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38187399..38220381hg38UCSC Ensembl
Innerchr2:38414541..38447523hg19UCSC Ensembl
Innerchr2:38268045..38301027hg18UCSC Ensembl
Innerchr2:38326192..38359174hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3832983
hg1932983
hg1832983
hg1732983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698451
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522806
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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