A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262749



Internal ID22120018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:30489850..30513307hg38UCSC Ensembl
Outerchr18:28069816..28093273hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234959
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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