A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532810



Internal ID22402131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:36879701..36879701hg38UCSC Ensembl
chr3:36921192..36921192hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397001
SamplesNA19240
Known GenesTRANK1
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)nsv3532810
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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