A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254995



Internal ID22220497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3127636..3135780hg38UCSC Ensembl
Outerchr11:3148866..3157010hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248713
Supporting Variants
SamplesHG00733
Known GenesOSBPL5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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