A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984362



Internal ID18272863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87933732..87936792hg38UCSC Ensembl
Innerchr16:87967338..87970398hg19UCSC Ensembl
Innerchr16:86524839..86527899hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg383061
hg193061
hg183061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2069822, nssv2069830, nssv2069821, nssv2069826, nssv2069827, nssv2069829, nssv2069823, nssv2069824, nssv2069828, nssv2069825
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCA5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984362
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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