A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3295784



Internal ID22388454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30845764..30848044hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406673
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)nsv3295784
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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