A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421676



Internal ID22159865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59355821..59355821hg38UCSC Ensembl
chr20:57930876..57930876hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551967
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421676
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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