A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961055



Internal ID18596302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:61874682..61875596hg38UCSC Ensembl
Innerchr18:59541915..59542829hg19UCSC Ensembl
Innerchr18:57692895..57693809hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38915
hg19915
hg18915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2126047, nssv2126054, nssv2126051, nssv2126050, nssv2126055, nssv2126056, nssv2126048, nssv2126053, nssv2126049, nssv2126052
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRNF152
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961055
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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