A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535871



Internal ID22405111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362775..193362775hg38UCSC Ensembl
chr3:193080564..193080564hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425211, nssv14452142
SamplesHG00733, HG00514
Known GenesATP13A5
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)nsv3535871
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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