A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533560



Internal ID22402865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183848947..183848947hg38UCSC Ensembl
chr4:184770100..184770100hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397357
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3533560
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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