A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285457



Internal ID22383836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18741452..18741602hg38UCSC Ensembl
chr10:19030381..19030531hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv824n152
Supporting Variantsnssv14454115, nssv14412295
SamplesNA19240, HG00733
Known Genes
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)nsv3285457
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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