A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2386038



Internal ID17392045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172996009..172997277hg38UCSC Ensembl
Innerchr5:172423012..172424280hg19UCSC Ensembl
Innerchr5:172355618..172356886hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381269
hg191269
hg181269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968271
Supporting Variants
SamplesHGDP00456
Known GenesATP6V0E1
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)nssv2386038
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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