A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976587



Internal ID18611793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24642570..24643739hg38UCSC Ensembl
Innerchr12:24795504..24796673hg19UCSC Ensembl
Innerchr12:24686771..24687940hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919494, nssv1919499, nssv1919500, nssv1919493, nssv1919498, nssv1919502, nssv1919495, nssv1919496, nssv1919497, nssv1919501
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)nsv976587
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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