A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272084



Internal ID22197891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49311915..49317785hg38UCSC Ensembl
Outerchr3:49349348..49355218hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38757
hg19757
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220404
Supporting Variants
SamplesHG00732
Known GenesUSP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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