A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505461



Internal ID282234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56214593..56215449hg38UCSC Ensembl
chr12:56608377..56609233hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057623
Samples
Known GenesRNF41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505461
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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