A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654298



Internal ID21602603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42400139..42400139hg38UCSC Ensembl
chr15:42692337..42692337hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17090284
SamplesHG02011
Known GenesCAPN3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654298
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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