A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718543



Internal ID142209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58870053..58872951hg38UCSC Ensembl
chr18:56537285..56540183hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg382899
hg192899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523208
Supporting Variants
Samples
Known GenesZNF532
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718543
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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