A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220587



Internal ID17801637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208055829..208059526hg38UCSC Ensembl
Innerchr2:208920553..208924250hg19UCSC Ensembl
Innerchr2:208628798..208632495hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383698
hg193698
hg183698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961926
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)nssv2220587
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