A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282332



Internal ID22380666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:187304399..187304773hg38UCSC Ensembl
chr4:188225553..188225927hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409597
SamplesNA19240
Known GenesLOC339975
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)nsv3282332
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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