A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976319



Internal ID18611525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21749984..21752190hg38UCSC Ensembl
Innerchr14:22218268..22220474hg19UCSC Ensembl
Innerchr14:21288108..21290314hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382207
hg192207
hg182207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1979043, nssv1979041, nssv1979039, nssv1979035, nssv1979036, nssv1979042, nssv1979038, nssv1979037, nssv1979040, nssv1979034
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)nsv976319
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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