A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285149



Internal ID22383523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58993695..58994112hg38UCSC Ensembl
chr16:59027599..59028016hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3238n152
Supporting Variantsnssv14404697
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3285149
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