A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262765



Internal ID22202458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57018477..57065895hg38UCSC Ensembl
Outerchr18:54685708..54733126hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246036
Supporting Variants
SamplesHG00732
Known GenesLINC-ROR, WDR7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262765
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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