A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2296972



Internal ID17818704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137723114..137724164hg38UCSC Ensembl
Innerchr3:137441956..137443006hg19UCSC Ensembl
Innerchr3:138924646..138925696hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg381051
hg191051
hg181051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979881
Supporting Variants
SamplesHGDP00927
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)nssv2296972
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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