A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230705



Internal ID22368223
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262448, nssv14262449
SamplesHG00731, HG00514
Known GenesLOC100131655
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230705
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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