A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2303661



Internal ID17729780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:167958501..167960084hg38UCSC Ensembl
Innerchr3:167676289..167677872hg19UCSC Ensembl
Innerchr3:169158983..169160566hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg381584
hg191584
hg181584
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979899
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)nssv2303661
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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