A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724926



Internal ID148592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60917726..60922260hg38UCSC Ensembl
chr17:58995087..58999621hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg384535
hg194535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533775
Supporting Variants
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724926
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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