A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2369043



Internal ID17397031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95770127..95771050hg38UCSC Ensembl
Innerchr5:95105831..95106754hg19UCSC Ensembl
Innerchr5:95131587..95132510hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38924
hg19924
hg18924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964909
Supporting Variants
SamplesHGDP00456
Known GenesRHOBTB3
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)nssv2369043
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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