A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963705



Internal ID18598945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112621823..112623906hg38UCSC Ensembl
Innerchr2:113379400..113381483hg19UCSC Ensembl
Innerchr2:113095871..113097954hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382084
hg192084
hg182084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2198462, nssv2198464, nssv2198469, nssv2198463, nssv2198467, nssv2198468, nssv2198461, nssv2198466, nssv2198465, nssv2198460
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)nsv963705
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