A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281343



Internal ID22379666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38081366..38081716hg38UCSC Ensembl
chr3:38122857..38123207hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435259
SamplesHG00514
Known GenesDLEC1
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)nsv3281343
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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