A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550229



Internal ID22419159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:37982521..37982521hg38UCSC Ensembl
chr15:38274722..38274722hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376537, nssv14445704
SamplesNA19240, HG00733
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)nsv3550229
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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