A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961414



Internal ID18249974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69608279..69612442hg38UCSC Ensembl
Innerchr2:69835411..69839574hg19UCSC Ensembl
Innerchr2:69688915..69693078hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384164
hg194164
hg184164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2176299, nssv2176300, nssv2176297, nssv2176296, nssv2176303, nssv2176295, nssv2176301, nssv2176302, nssv2176294, nssv2176298
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAAK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961414
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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