A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506351



Internal ID283100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121023849..121023952hg38UCSC Ensembl
chr12:121461652..121461755hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684951
Samples
Known GenesOASL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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