A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453371



Internal ID22217878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133375291..133375291hg38UCSC Ensembl
chr5:132710983..132710983hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533893
Supporting Variants
SamplesHG00733
Known GenesFSTL4
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)nssv14453371
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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