A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972005



Internal ID18607221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43717057..43720963hg38UCSC Ensembl
Innerchr11:43738607..43742513hg19UCSC Ensembl
Innerchr11:43695183..43699089hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383907
hg193907
hg183907
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1883475, nssv1883470, nssv1883474, nssv1883472, nssv1883471, nssv1883473, nssv1883469, nssv1883467, nssv1883476, nssv1883468
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSD17B12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972005
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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