A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713940



Internal ID137606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62517635..62517951hg38UCSC Ensembl
chr17:60594996..60595312hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519325
Supporting Variants
Samples
Known GenesTLK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713940
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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