A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961036



Internal ID18249597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26159853..26171267hg38UCSC Ensembl
Innerchr18:23739817..23751231hg19UCSC Ensembl
Innerchr18:21993815..22005229hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3811415
hg1911415
hg1811415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2120048, nssv2120046, nssv2120052, nssv2120053, nssv2120050, nssv2120049, nssv2120051, nssv2120045, nssv2120044, nssv2120047
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPSMA8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961036
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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