A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716933



Internal ID140599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:29246508..29256998hg38UCSC Ensembl
chr18:26826473..26836963hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3810491
hg1910491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521237
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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