A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2391696



Internal ID17781653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181351190..181371476hg38UCSC Ensembl
Innerchr5:180778191..180798477hg19UCSC Ensembl
Innerchr5:180710797..180731083hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3820287
hg1920287
hg1820287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv964808
Supporting Variants
SamplesHGDP00665
Known GenesOR4F16, OR4F29, OR4F3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2391696
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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