A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704368



Internal ID128034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78934172..78940717hg38UCSC Ensembl
chr15:79226514..79233059hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg386546
hg196546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531668
Supporting Variants
Samples
Known GenesCTSH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704368
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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