A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2374738



Internal ID17780319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123615462..123616649hg38UCSC Ensembl
Innerchr5:122951156..122952343hg19UCSC Ensembl
Innerchr5:122979055..122980242hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381188
hg191188
hg181188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968239
Supporting Variants
SamplesHGDP00665
Known GenesCSNK1G3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2374738
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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