A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554655



Internal ID22423512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113263172..113263172hg38UCSC Ensembl
chr13:113917486..113917486hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443199
SamplesHG00733
Known GenesCUL4A
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)nsv3554655
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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