A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536769



Internal ID22405991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149809142..149809142hg38UCSC Ensembl
chr5:149188705..149188705hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399922
SamplesNA19240
Known GenesPPARGC1B
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)nsv3536769
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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