A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256106



Internal ID22196789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103006468..103041298hg38UCSC Ensembl
Outerchr12:103400246..103435076hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234742
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256106
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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