A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2357265



Internal ID17803480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58822153..58824579hg38UCSC Ensembl
Innerchr5:58117980..58120406hg19UCSC Ensembl
Innerchr5:58153737..58156163hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382427
hg192427
hg182427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968177
Supporting Variants
SamplesHGDP00778
Known GenesRAB3C
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)nssv2357265
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