A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518417



Internal ID294805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12758335..13362335hg38UCSC Ensembl
chr20:12738982..13342982hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38604001
hg19604001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730955
Samples
Known GenesISM1, ISM1-AS1, SPTLC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518417
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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