A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285417



Internal ID22383796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66379880..66379934hg38UCSC Ensembl
chr16:66413783..66413837hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404724
SamplesNA19240
Known GenesCDH5
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)nsv3285417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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