A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255741



Internal ID22131500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130170..199516hg38UCSC Ensembl
Outerchr11:130170..199516hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3815744
hg1915744
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237636
Supporting Variants
SamplesHG00513
Known GenesLINC01001, LOC653486, ODF3, SCGB1C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255741
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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