A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699820



Internal ID123486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48348405..48352659hg38UCSC Ensembl
chr15:48640602..48644856hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384255
hg194255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531488
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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