A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447845



Internal ID22243384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50258483..50258483hg38UCSC Ensembl
chr20:48875020..48875020hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543451
Supporting Variants
SamplesHG00733
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)nssv14447845
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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