A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188469



Internal ID21327304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141599751..141599751hg38UCSC Ensembl
chr3:141318593..141318593hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929683
Supporting Variants
SamplesHG002
Known GenesRASA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188469
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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