A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732490



Internal ID156156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42887612..42887663hg38UCSC Ensembl
chr20:41516252..41516303hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433431
Supporting Variants
Samples
Known GenesPTPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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