A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976648



Internal ID18611854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98583213..98591162hg38UCSC Ensembl
Innerchr12:98976991..98984940hg19UCSC Ensembl
Innerchr12:97501122..97509071hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387950
hg197950
hg187950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941562, nssv1941557, nssv1941558, nssv1941564, nssv1941561, nssv1941563, nssv1941556, nssv1941555, nssv1941559, nssv1941560
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)nsv976648
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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