A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583143



Internal ID16023866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131319806..131540895hg38UCSC Ensembl
Innerchr2:132077379..132298468hg19UCSC Ensembl
Innerchr2:131793849..132014938hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38221090
hg19221090
hg18221090
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151297, nssv1151298, nssv1151299
SamplesHGDP01067, HGDP00986, HGDP00460
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583143
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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