A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976559



Internal ID18611765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4097606..4107032hg38UCSC Ensembl
Innerchr12:4206772..4216198hg19UCSC Ensembl
Innerchr12:4077033..4086459hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg389427
hg199427
hg189427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1910605, nssv1910604, nssv1910607, nssv1910601, nssv1910602, nssv1910598, nssv1910606, nssv1910599, nssv1910603, nssv1910600
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)nsv976559
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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