A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255736



Internal ID22117740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131325469..131346724hg38UCSC Ensembl
Outerchr11:131195364..131216619hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242076
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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