A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2367061



Internal ID17525897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80296139..80318562hg38UCSC Ensembl
Innerchr5:79591958..79614381hg19UCSC Ensembl
Innerchr5:79627714..79650137hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3822424
hg1922424
hg1822424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980690
Supporting Variants
SamplesHGDP01284
Known GenesLOC644936
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)nssv2367061
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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