A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532282



Internal ID22401611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5405073..5405073hg38UCSC Ensembl
chr2:5545206..5545206hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392889
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)nsv3532282
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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