A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979819



Internal ID18615020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:33836446..33860330hg38UCSC Ensembl
Innerchr3:33877938..33901822hg19UCSC Ensembl
Innerchr3:33852942..33876826hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3823885
hg1923885
hg1823885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2277523, nssv2277521, nssv2277525, nssv2277522, nssv2277527, nssv2277524, nssv2277528, nssv2277530, nssv2277529, nssv2277526
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDCD6IP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979819
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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