A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690814



Internal ID114480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123474642..123474774hg38UCSC Ensembl
chr12:123959189..123959321hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500335
Supporting Variants
Samples
Known GenesRILPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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