A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254837



Internal ID22298172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:77686731..77726251hg38UCSC Ensembl
Outerchr12:78080511..78120031hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3839521
hg1939521
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216038
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254837
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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