A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976647



Internal ID18611853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95514819..95516028hg38UCSC Ensembl
Innerchr12:95908595..95909804hg19UCSC Ensembl
Innerchr12:94432726..94433935hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381210
hg191210
hg181210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1942311, nssv1942313, nssv1942318, nssv1942315, nssv1942316, nssv1942317, nssv1942314, nssv1942309, nssv1942310, nssv1942312
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMETAP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976647
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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