A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2020404



Internal ID17727628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:44844684..44906887hg38UCSC Ensembl
Innerchr15:45136882..45199085hg19UCSC Ensembl
Innerchr15:42924174..42986377hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3862204
hg1962204
hg1862204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976929
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)nssv2020404
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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