A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733042



Internal ID156708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53469059..53473660hg38UCSC Ensembl
chr20:52085598..52090199hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525606
Supporting Variants
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733042
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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