A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272162



Internal ID22126097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84544006..84551832hg38UCSC Ensembl
Outerchr3:84593157..84600983hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213267
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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