A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494539



Internal ID271678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123519042..123520444hg38UCSC Ensembl
chr12:124003589..124004991hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690819
Samples
Known GenesRILPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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