A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961544



Internal ID18250104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196821775..196824053hg38UCSC Ensembl
Innerchr2:197686499..197688777hg19UCSC Ensembl
Innerchr2:197394744..197397022hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382279
hg192279
hg182279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216364, nssv2216362, nssv2216368, nssv2216367, nssv2216371, nssv2216365, nssv2216363, nssv2216369, nssv2216370, nssv2216366
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)nsv961544
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