A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532189



Internal ID22401522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46776408..46776408hg38UCSC Ensembl
chr1:47242080..47242080hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384900
SamplesNA19240
Known Genes
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)nsv3532189
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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