A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720599



Internal ID144265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3595940..3596002hg38UCSC Ensembl
chr19:3595938..3596000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523472
Supporting Variants
Samples
Known GenesTBXA2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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