A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554251



Internal ID22423115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99463060..99463060hg38UCSC Ensembl
chr13:100115314..100115314hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444911
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)nsv3554251
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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