A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256341



Internal ID22207500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70190261..70220589hg38UCSC Ensembl
Outerchr12:70584041..70614369hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3830329
hg1930329
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225369
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256341
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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