A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702477



Internal ID126143
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 StatusS
Merged Variantsnsv5428252
Supporting Variants
Samples
Known GenesCSPG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702477
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer