A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2288909



Internal ID17883874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112301589..112309090hg38UCSC Ensembl
Innerchr3:112020436..112027937hg19UCSC Ensembl
Innerchr3:113503126..113510627hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg387502
hg197502
hg187502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967052
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2288909
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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