A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255189



Internal ID22325350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95827927..95855241hg38UCSC Ensembl
Outerchr12:96221705..96249019hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3827315
hg1927315
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221559
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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