A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713939



Internal ID137605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62513076..62514705hg38UCSC Ensembl
chr17:60590437..60592066hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381630
hg191630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525390
Supporting Variants
Samples
Known GenesTLK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713939
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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