A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253992



Internal ID22287762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1488904..1514009hg38UCSC Ensembl
Outerchr11:1510134..1535239hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381717
hg191717
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236295
Supporting Variants
SamplesNA19240
Known GenesMOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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