A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721159



Internal ID144825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8519872..8588948hg38UCSC Ensembl
chr19:8584756..8653832hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3869077
hg1969077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527345
Supporting Variants
Samples
Known GenesADAMTS10, MYO1F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721159
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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