A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2290936



Internal ID17458689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:96349449..96351907hg38UCSC Ensembl
Innerchr3:96068293..96070751hg19UCSC Ensembl
Innerchr3:97550983..97553441hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg382459
hg192459
hg182459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967040
Supporting Variants
SamplesHGDP00778
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)nssv2290936
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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