A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2305969



Internal ID17866794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186789057..186789772hg38UCSC Ensembl
Innerchr3:186506846..186507561hg19UCSC Ensembl
Innerchr3:187989540..187990255hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38716
hg19716
hg18716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963390
Supporting Variants
SamplesHGDP01284
Known GenesEIF4A2
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)nssv2305969
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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