A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282025



Internal ID22380355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47976145..47976233hg38UCSC Ensembl
chr4:47978162..47978250hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435446
SamplesHG00514
Known GenesCNGA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3282025
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