A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281286



Internal ID22379609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:66711843..66712003hg38UCSC Ensembl
chr4:67577561..67577721hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411568
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)nsv3281286
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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