A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721658



Internal ID145324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14139758..14139843hg38UCSC Ensembl
chr19:14250570..14250655hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523734
Supporting Variants
Samples
Known GenesLOC100507373
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721658
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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