A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976639



Internal ID18611845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68473807..68475352hg38UCSC Ensembl
Innerchr12:68867587..68869132hg19UCSC Ensembl
Innerchr12:67153854..67155399hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381546
hg191546
hg181546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1938150, nssv1938148, nssv1938147, nssv1938143, nssv1938142, nssv1938151, nssv1938144, nssv1938145, nssv1938146, nssv1938149
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)nsv976639
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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