A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984251



Internal ID18619439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2332401..2333266hg38UCSC Ensembl
Innerchr16:2382402..2383267hg19UCSC Ensembl
Innerchr16:2322403..2323268hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38866
hg19866
hg18866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2039683, nssv2039682, nssv2039681, nssv2039686, nssv2039684, nssv2039685, nssv2039679, nssv2039687, nssv2039678, nssv2039680
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesABCA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984251
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer