A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546531



Internal ID22415518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63862706..63862706hg38UCSC Ensembl
chr15:64154905..64154905hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445099
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)nsv3546531
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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