A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2296449



Internal ID17730352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129396674..129399452hg38UCSC Ensembl
Innerchr3:129115517..129118295hg19UCSC Ensembl
Innerchr3:130598207..130600985hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382779
hg192779
hg182779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979877
Supporting Variants
SamplesHGDP00456
Known GenesRPL32P3, SNORA7B
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)nssv2296449
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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