A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976113



Internal ID18611320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49890722..49892841hg38UCSC Ensembl
Innerchr13:50464858..50466977hg19UCSC Ensembl
Innerchr13:49362859..49364978hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382120
hg192120
hg182120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1963252, nssv1963250, nssv1963244, nssv1963243, nssv1963249, nssv1963246, nssv1963245, nssv1963247, nssv1963248, nssv1963251
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTAGE10P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976113
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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