A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724938



Internal ID148604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61116793..61119959hg38UCSC Ensembl
chr17:59194154..59197320hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383167
hg193167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523476
Supporting Variants
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724938
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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