A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010068



Internal ID74355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27393438..27393496hg38UCSC Ensembl
chr8:27250955..27251013hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490612
Supporting Variants
Samples
Known GenesPTK2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010068
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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