A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983048



Internal ID18271556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87813584..87816448hg38UCSC Ensembl
Innerchr11:87524476..87527340hg19UCSC Ensembl
Innerchr11:87202124..87204988hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg382865
hg192865
hg182865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1898446, nssv1898443, nssv1898444, nssv1898445, nssv1898442, nssv1898450, nssv1898441, nssv1898448, nssv1898447, nssv1898449
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)nsv983048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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