A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262700



Internal ID22119996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79611125..79708271hg38UCSC Ensembl
Outerchr18:77371125..77468271hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384281
hg194281
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245975
Supporting Variants
SamplesHG00512
Known GenesCTDP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262700
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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