A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2294896



Internal ID17734984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:134383071..134385951hg38UCSC Ensembl
Innerchr3:134101913..134104793hg19UCSC Ensembl
Innerchr3:135584603..135587483hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382881
hg192881
hg182881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967067
Supporting Variants
SamplesHGDP00456
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)nssv2294896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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