A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280853



Internal ID22379169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151599293..151599533hg38UCSC Ensembl
chr1:151571769..151572009hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv417n152
Supporting Variantsnssv14465407
SamplesHG00733
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)nsv3280853
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