A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264435



Internal ID22275530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23074129..23090225hg38UCSC Ensembl
Outerchr2:23297000..23313096hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3816097
hg1916097
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209332
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264435
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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