A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976322



Internal ID18611528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23988989..23989671hg38UCSC Ensembl
Innerchr14:24458198..24458880hg19UCSC Ensembl
Innerchr14:23528038..23528720hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38683
hg19683
hg18683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1979420, nssv1979411, nssv1979416, nssv1979417, nssv1979414, nssv1979412, nssv1979415, nssv1979418, nssv1979413, nssv1979419
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDHRS4L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976322
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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