A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2293647



Internal ID17836269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:117026696..117034955hg38UCSC Ensembl
Innerchr3:116745543..116753802hg19UCSC Ensembl
Innerchr3:118228233..118236492hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg388260
hg198260
hg188260
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963352
Supporting Variants
SamplesHGDP00998
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)nssv2293647
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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