A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018469



Internal ID79949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144754257..144757070hg38UCSC Ensembl
chr8:145979642..145982455hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382814
hg192814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490321
Supporting Variants
Samples
Known GenesZNF251
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018469
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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