A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255000



Internal ID22255093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:913427..922956hg38UCSC Ensembl
Outerchr12:1022593..1032122hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389530
hg199530
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220333
Supporting Variants
SamplesNA19238
Known GenesRAD52
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255000
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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