A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205667



Internal ID22354332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79317508..79317598hg38UCSC Ensembl
chr1:79783193..79783283hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv288n152
Supporting Variantsnssv14405298
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205667
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