A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961438



Internal ID18596684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91426526..91487608hg38UCSC Ensembl
Innerchr2:91616161..91679722hg19UCSC Ensembl
Innerchr2:90979888..91043449hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3861083
hg1963562
hg1863562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2185205, nssv2185198, nssv2185202, nssv2185199, nssv2185204, nssv2185196, nssv2185203, nssv2185201, nssv2185197, nssv2185200
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961438
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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