A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724933



Internal ID148599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61008524..61008574hg38UCSC Ensembl
chr17:59085885..59085935hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527364
Supporting Variants
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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