A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2382191



Internal ID17877829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141895749..141899765hg38UCSC Ensembl
Innerchr5:141275314..141279330hg19UCSC Ensembl
Innerchr5:141255498..141259514hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384017
hg194017
hg184017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968999
Supporting Variants
SamplesHGDP01307
Known GenesLOC729080
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)nssv2382191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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