A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975498



Internal ID18610706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55409967..55414561hg38UCSC Ensembl
Innerchr12:55803751..55808345hg19UCSC Ensembl
Innerchr12:54090018..54094612hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384595
hg194595
hg184595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932249, nssv1932256, nssv1932257, nssv1932251, nssv1932255, nssv1932254, nssv1932258, nssv1932252, nssv1932250, nssv1932253
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)nsv975498
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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