A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722839



Internal ID146505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32831914..32832036hg38UCSC Ensembl
chr19:33322820..33322942hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514931
Supporting Variants
Samples
Known GenesSLC7A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722839
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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