A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428252



Internal ID207130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75675573..75675624hg38UCSC Ensembl
chr15:75967914..75967965hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702477
Samples
Known GenesCSPG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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