A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254628



Internal ID22320623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55600110..55611299hg38UCSC Ensembl
Outerchr12:55993894..56005083hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3811190
hg1911190
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224045
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254628
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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