A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262402



Internal ID22119902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78262064..78283456hg38UCSC Ensembl
Outerchr18:76022064..76043456hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236301
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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