A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220496



Internal ID17784632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208027656..208032296hg38UCSC Ensembl
Innerchr2:208892380..208897020hg19UCSC Ensembl
Innerchr2:208600625..208605265hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384641
hg194641
hg184641
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961925
Supporting Variants
SamplesHGDP00665
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)nssv2220496
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