A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254928



Internal ID22220476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119343795..119353199hg38UCSC Ensembl
Outerchr11:119214505..119223909hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238908
Supporting Variants
SamplesHG00733
Known GenesC1QTNF5, MFRP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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