A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520917



Internal ID15448210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75121920..75139811hg38UCSC Ensembl
Innerchr2:75349046..75366937hg19UCSC Ensembl
Innerchr2:75202554..75220445hg18UCSC Ensembl
Innerchr2:75260701..75278592hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3817892
hg1917892
hg1817892
hg1717892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694082
Samples
Known GenesTACR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520917
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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