A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2383581



Internal ID17815119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151803863..151804649hg38UCSC Ensembl
Innerchr5:151183424..151184210hg19UCSC Ensembl
Innerchr5:151163617..151164403hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38787
hg19787
hg18787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980745
Supporting Variants
SamplesHGDP00927
Known GenesG3BP1
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)nssv2383581
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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