A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254579



Internal ID22263276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131773296..131801783hg38UCSC Ensembl
Outerchr11:131643190..131671677hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381571
hg191571
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242458
Supporting Variants
SamplesNA19238
Known GenesNTM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254579
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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