A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717712



Internal ID141378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42768831..42772529hg38UCSC Ensembl
chr18:40348796..40352494hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383699
hg193699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533690
Supporting Variants
Samples
Known GenesRIT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717712
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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