A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262293



Internal ID22257085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11859418..11867755hg38UCSC Ensembl
Outerchr18:11859417..11867754hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg388338
hg198338
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216322
Supporting Variants
SamplesNA19238
Known GenesGNAL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262293
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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