A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961390



Internal ID18249950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26190851..26191549hg38UCSC Ensembl
Innerchr2:26413720..26414418hg19UCSC Ensembl
Innerchr2:26267224..26267922hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167043, nssv2167038, nssv2167046, nssv2167039, nssv2167045, nssv2167042, nssv2167041, nssv2167047, nssv2167040, nssv2167044
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHADHA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961390
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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