A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545007



Internal ID22414029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112539862..112539862hg38UCSC Ensembl
chr13:113194176..113194176hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444448
SamplesHG00733
Known GenesTUBGCP3
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)nsv3545007
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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