A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975514



Internal ID18610722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76654239..76661227hg38UCSC Ensembl
Innerchr12:77048019..77055007hg19UCSC Ensembl
Innerchr12:75572150..75579138hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386989
hg196989
hg186989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1938299, nssv1938295, nssv1938296, nssv1938828, nssv1938830, nssv1938829, nssv1938298, nssv1938831, nssv1938297, nssv1938832
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)nsv975514
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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