A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450723



Internal ID22245851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99589062..99589062hg38UCSC Ensembl
chr4:100510219..100510219hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540597
Supporting Variants
SamplesHG00733
Known GenesMTTP
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)nssv14450723
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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