A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254685



Internal ID22144513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:87725339..87759508hg38UCSC Ensembl
Outerchr12:88119116..88153285hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3834170
hg1934170
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220442
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254685
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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