A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721930



Internal ID145596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17254000..17270000hg38UCSC Ensembl
chr19:17364809..17380809hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145036
Supporting Variants
Samples
Known GenesBABAM1, USHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000474


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