A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2372820



Internal ID17809337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111845819..111847917hg38UCSC Ensembl
Innerchr5:111181516..111183614hg19UCSC Ensembl
Innerchr5:111209415..111211513hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968233
Supporting Variants
SamplesHGDP00778
Known GenesNREP
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)nssv2372820
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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