A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253543



Internal ID22282036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158862507..158922042hg38UCSC Ensembl
Outerchr1:158832297..158891832hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3859536
hg1959536
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194174
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253543
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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