A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500335



Internal ID277275
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 StatusM
Merged Variants
Supporting Variantsnssv17690814
Samples
Known GenesRILPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500335
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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