A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254979



Internal ID22199987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11268667..11271021hg38UCSC Ensembl
Outerchr11:11290214..11292568hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230938
Supporting Variants
SamplesHG00732
Known GenesGALNT18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254979
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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