A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547443



Internal ID22416412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71199892..71199892hg38UCSC Ensembl
chr15:71492231..71492231hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445133, nssv14418101, nssv14379061
SamplesNA19240, HG00733, HG00514
Known GenesTHSD4
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)nsv3547443
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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