A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2344967



Internal ID17831067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5390379..5394865hg38UCSC Ensembl
Innerchr5:5390492..5394978hg19UCSC Ensembl
Innerchr5:5443492..5447978hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg384487
hg194487
hg184487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968869
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2344967
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