A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961049



Internal ID18596296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48478508..48479959hg38UCSC Ensembl
Innerchr18:46004879..46006330hg19UCSC Ensembl
Innerchr18:44258877..44260328hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381452
hg191452
hg181452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2122405, nssv2122408, nssv2122409, nssv2122406, nssv2122407, nssv2122402, nssv2122401, nssv2122400, nssv2122403, nssv2122404
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)nsv961049
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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