A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2366272



Internal ID17870879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80282232..80289545hg38UCSC Ensembl
Innerchr5:79578051..79585364hg19UCSC Ensembl
Innerchr5:79613807..79621120hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387314
hg197314
hg187314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964902
Supporting Variants
SamplesHGDP01284
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)nssv2366272
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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