A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716351



Internal ID140017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12992103..12992194hg38UCSC Ensembl
chr18:12992102..12992193hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530689
Supporting Variants
Samples
Known GenesCEP192
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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