A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974357



Internal ID18609568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81917241..81917850hg38UCSC Ensembl
Innerchr14:82383585..82384194hg19UCSC Ensembl
Innerchr14:81453338..81453947hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38610
hg19610
hg18610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1994398, nssv1994402, nssv1994400, nssv1994403, nssv1994396, nssv1994399, nssv1994395, nssv1994397, nssv1994401, nssv1994394
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)nsv974357
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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