A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2346096



Internal ID17849996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1608816..1639202hg38UCSC Ensembl
Innerchr5:1608931..1639317hg19UCSC Ensembl
Innerchr5:1661931..1692317hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3830387
hg1930387
hg1830387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964815
Supporting Variants
SamplesHGDP01029
Known GenesLOC728613
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)nssv2346096
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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