A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2107920



Internal ID17537578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64749454..64758635hg38UCSC Ensembl
Innerchr17:62745572..62754753hg19UCSC Ensembl
Innerchr17:60176034..60185215hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg389182
hg199182
hg189182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960140
Supporting Variants
SamplesHGDP01307
Known GenesLOC146880
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)nssv2107920
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