A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961047



Internal ID18596294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47630165..47630783hg38UCSC Ensembl
Innerchr18:45156536..45157154hg19UCSC Ensembl
Innerchr18:43410534..43411152hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38619
hg19619
hg18619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2124328, nssv2124329, nssv2124325, nssv2124322, nssv2124324, nssv2124320, nssv2124323, nssv2124321, nssv2124327, nssv2124326
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)nsv961047
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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