A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272174



Internal ID22271091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84886310..84905971hg38UCSC Ensembl
Outerchr3:84935461..84955122hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3815130
hg1915130
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224599
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272174
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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