A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713891



Internal ID137557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59691498..59692261hg38UCSC Ensembl
chr17:57768859..57769622hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524512
Supporting Variants
Samples
Known GenesCLTC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713891
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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