A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282031



Internal ID22380361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194348174..194348249hg38UCSC Ensembl
chr3:194068903..194068978hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435389
SamplesHG00514
Known GenesCPN2
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)nsv3282031
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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