A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975443



Internal ID18610651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9444155..9448873hg38UCSC Ensembl
Innerchr12:9596751..9601469hg19UCSC Ensembl
Innerchr12:9488018..9492736hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384719
hg194719
hg184719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1913943, nssv1913944, nssv1913937, nssv1913940, nssv1913939, nssv1913935, nssv1913942, nssv1913938, nssv1913936, nssv1913941
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDDX12P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975443
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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