A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2021393



Internal ID17783984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:44962093..44971078hg38UCSC Ensembl
Innerchr15:45254291..45263276hg19UCSC Ensembl
Innerchr15:43041583..43050568hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg388986
hg198986
hg188986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976930
Supporting Variants
SamplesHGDP00665
Known GenesC15orf43
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)nssv2021393
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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