A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2165354



Internal ID17504488
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 StatusS
Merged Variantsnsv978986
Supporting Variants
SamplesHGDP01029
Known GenesASXL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2165354
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer