A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272560



Internal ID22141519
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223574
Supporting Variants
SamplesHG00513
Known GenesDALRD3, WDR6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272560
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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