A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255554



Internal ID22117632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30075494..30094901hg38UCSC Ensembl
Outerchr12:30228427..30247834hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3819408
hg1919408
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221980
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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