A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719546



Internal ID143212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75651170..75651285hg38UCSC Ensembl
chr18:73363125..73363240hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524203
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719546
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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