A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2109025



Internal ID17383456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75167508..75171644hg38UCSC Ensembl
Innerchr17:73163603..73167739hg19UCSC Ensembl
Innerchr17:70675198..70679334hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384137
hg194137
hg184137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960527
Supporting Variants
SamplesHGDP00456
Known GenesSUMO2
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)nssv2109025
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