A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2020053



Internal ID17772179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:40480409..40485053hg38UCSC Ensembl
Innerchr15:40772608..40777252hg19UCSC Ensembl
Innerchr15:38559900..38564544hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg384645
hg194645
hg184645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984055
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)nssv2020053
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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