A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223574



Internal ID22367299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49014694..49018058hg38UCSC Ensembl
Outerchr3:49052127..49055491hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272560
SamplesHG00513
Known GenesDALRD3, WDR6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223574
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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