A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262448



Internal ID22145666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76791985..76815312hg38UCSC Ensembl
Outerchr18:74503941..74527268hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381591
hg191591
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230705
Supporting Variants
SamplesHG00514
Known GenesLOC100131655
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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