A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2023131



Internal ID17887014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:46341252..46341898hg38UCSC Ensembl
Innerchr15:46633450..46634096hg19UCSC Ensembl
Innerchr15:44420742..44421388hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38647
hg19647
hg18647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976931
Supporting Variants
SamplesHGDP01307
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)nssv2023131
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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