A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979122



Internal ID18267639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131340361..131401422hg38UCSC Ensembl
Innerchr2:132097934..132158995hg19UCSC Ensembl
Innerchr2:131814404..131875465hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3861062
hg1961062
hg1861062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2204751, nssv2204753, nssv2204752, nssv2204750, nssv2204756, nssv2204748, nssv2204755, nssv2204754, nssv2204747, nssv2204749
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWTH3DI
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979122
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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