A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254253



Internal ID22117198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1503758..1541923hg38UCSC Ensembl
Outerchr11:1524988..1563153hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg386379
hg196379
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248530
Supporting Variants
SamplesHG00512
Known GenesMOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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