A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537519



Internal ID22406722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38584574..38584574hg38UCSC Ensembl
chr3:38626065..38626065hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg386116
hg196116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450382, nssv14423929
SamplesHG00733, HG00514
Known GenesSCN5A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3537519
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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