A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978986



Internal ID18267503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25822689..25823885hg38UCSC Ensembl
Innerchr2:26045558..26046754hg19UCSC Ensembl
Innerchr2:25899062..25900258hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381197
hg191197
hg181197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2165347, nssv2165351, nssv2165349, nssv2165350, nssv2165355, nssv2165348, nssv2165356, nssv2165352, nssv2165353, nssv2165354
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesASXL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978986
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