A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268085



Internal ID22308036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112285214..112298895hg38UCSC Ensembl
Outerchr1:112827836..112841517hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3813682
hg1913682
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209646
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268085
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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