A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2381272



Internal ID17842739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:145717911..145731688hg38UCSC Ensembl
Innerchr5:145097474..145111251hg19UCSC Ensembl
Innerchr5:145077667..145091444hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3813778
hg1913778
hg1813778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969001
Supporting Variants
SamplesHGDP00998
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)nssv2381272
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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