A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963770



Internal ID18599010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208206849..208208928hg38UCSC Ensembl
Innerchr2:209071573..209073652hg19UCSC Ensembl
Innerchr2:208779818..208781897hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382080
hg192080
hg182080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2218845, nssv2218851, nssv2218853, nssv2218847, nssv2218846, nssv2218854, nssv2218848, nssv2218852, nssv2218849, nssv2218850
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)nsv963770
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