A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255724



Internal ID22131492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:110492238..110510654hg38UCSC Ensembl
Outerchr11:110362962..110381378hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg386030
hg196030
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241826
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255724
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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