A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976606



Internal ID18611812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39463091..39467197hg38UCSC Ensembl
Innerchr12:39856893..39860999hg19UCSC Ensembl
Innerchr12:38143160..38147266hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384107
hg194107
hg184107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1926448, nssv1926453, nssv1926451, nssv1926454, nssv1926450, nssv1926452, nssv1926449, nssv1926446, nssv1926455, nssv1926447
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)nsv976606
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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