A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2164455



Internal ID17799731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26147331..26150592hg38UCSC Ensembl
Innerchr2:26370200..26373461hg19UCSC Ensembl
Innerchr2:26223704..26226965hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383262
hg193262
hg183262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961389
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2164455
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