A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453287



Internal ID22248061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30657866..30660170hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382305
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246506
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453287
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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