A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2341729



Internal ID17772018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169790931..169791550hg38UCSC Ensembl
Innerchr4:170712082..170712701hg19UCSC Ensembl
Innerchr4:170948657..170949276hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38620
hg19620
hg18620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980274
Supporting Variants
SamplesHGDP00542
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)nssv2341729
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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