A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2346632



Internal ID17773372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2934171..2945372hg38UCSC Ensembl
Innerchr5:2934285..2945486hg19UCSC Ensembl
Innerchr5:2987285..2998486hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3811202
hg1911202
hg1811202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968137
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2346632
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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