A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254523



Internal ID22131112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65506006..65525625hg38UCSC Ensembl
Outerchr11:65273477..65293096hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246076
Supporting Variants
SamplesHG00513
Known GenesMALAT1, MIR548AR, MIR548BA, SCYL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254523
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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