A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713080



Internal ID136746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40143669..40144100hg38UCSC Ensembl
chr17:38299922..38300353hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515308
Supporting Variants
Samples
Known GenesCASC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713080
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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