A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3299904



Internal ID22389027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8574522..8574579hg38UCSC Ensembl
chr19:8639406..8639463hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4125n152
Supporting Variantsnssv14458222
SamplesHG00733
Known GenesMYO1F
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)nsv3299904
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