A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945409



Internal ID18592260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242254069..242365608hg38UCSC Ensembl
Innerchr1:242417371..242528910hg19UCSC Ensembl
Innerchr1:240483994..240595533hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38111540
hg19111540
hg18111540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1825838, nssv1825832, nssv1825836, nssv1825839, nssv1825833, nssv1825834, nssv1825837, nssv1825840, nssv1825841, nssv1825835
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLD5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945409
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