A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254626



Internal ID22254962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49609111..49638024hg38UCSC Ensembl
Outerchr12:50002894..50031807hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3828914
hg1928914
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212715
Supporting Variants
SamplesNA19238
Known GenesFMNL3, PRPF40B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254626
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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