A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973096



Internal ID18261625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80101256..80103928hg38UCSC Ensembl
Innerchr12:80495036..80497708hg19UCSC Ensembl
Innerchr12:79019167..79021839hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382673
hg192673
hg182673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1939255, nssv1939247, nssv1939249, nssv1939250, nssv1939256, nssv1939253, nssv1939252, nssv1939251, nssv1939248, nssv1939254
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)nsv973096
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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