A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533524



Internal ID22402829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169769250..169769250hg38UCSC Ensembl
chr3:169487038..169487038hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397141
SamplesNA19240
Known GenesACTRT3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3533524
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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