A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262824



Internal ID22264364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45038874..45067881hg38UCSC Ensembl
Outerchr18:42618839..42647846hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3829008
hg1929008
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216568
Supporting Variants
SamplesNA19238
Known GenesSETBP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262824
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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