A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254635



Internal ID22263190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58321651..58345601hg38UCSC Ensembl
Outerchr12:58715434..58739384hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3823951
hg1923951
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223744
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254635
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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