A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2344110



Internal ID17490733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:221625..227439hg38UCSC Ensembl
Innerchr5:221740..227554hg19UCSC Ensembl
Innerchr5:274740..280554hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385815
hg195815
hg185815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964812
Supporting Variants
SamplesHGDP00998
Known GenesSDHA
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)nssv2344110
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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