A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255823



Internal ID22131564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93094003..93117349hg38UCSC Ensembl
Outerchr12:93487779..93511125hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3823347
hg1923347
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227415
Supporting Variants
SamplesHG00513
Known GenesLOC643339
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255823
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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