A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976562



Internal ID18611768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8080051..8081751hg38UCSC Ensembl
Innerchr12:8232647..8234347hg19UCSC Ensembl
Innerchr12:8123914..8125614hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381701
hg191701
hg181701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911869, nssv1911867, nssv1911868, nssv1911862, nssv1911863, nssv1911866, nssv1911871, nssv1911864, nssv1911865, nssv1911870
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)nsv976562
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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