A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406673



Internal ID22293131
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 StatusS
Merged Variantsnsv3295784
Supporting Variants
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)nssv14406673
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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