A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254678



Internal ID22263220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:84445766..84513607hg38UCSC Ensembl
Outerchr12:84839545..84907386hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3867842
hg1967842
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214433
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254678
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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