A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976324



Internal ID18611530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30820603..30821666hg38UCSC Ensembl
Innerchr14:31289809..31290872hg19UCSC Ensembl
Innerchr14:30359560..30360623hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381064
hg191064
hg181064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1982874, nssv1982868, nssv1982866, nssv1982872, nssv1982871, nssv1982870, nssv1982873, nssv1982875, nssv1982869, nssv1982867
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)nsv976324
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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