A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724947



Internal ID148613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61241724..61244839hg38UCSC Ensembl
chr17:59319085..59322200hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383116
hg193116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517887
Supporting Variants
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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