A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450064



Internal ID22245294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41672809..41672809hg38UCSC Ensembl
chr21:43092969..43092969hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551397
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)nssv14450064
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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