A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2313108



Internal ID17787792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9627825..9763331hg38UCSC Ensembl
Innerchr4:9629449..9764955hg19UCSC Ensembl
Innerchr4:9238547..9374053hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38135507
hg19135507
hg18135507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964031
Supporting Variants
SamplesHGDP00665
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)nssv2313108
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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