A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976560



Internal ID18611766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5032493..5034433hg38UCSC Ensembl
Innerchr12:5141659..5143599hg19UCSC Ensembl
Innerchr12:5011920..5013860hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381941
hg191941
hg181941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911224, nssv1911228, nssv1911227, nssv1911229, nssv1911230, nssv1911222, nssv1911226, nssv1911231, nssv1911223, nssv1911225
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976560
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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