A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254990



Internal ID22199996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128804864..128871418hg38UCSC Ensembl
Outerchr11:128674759..128741313hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240033
Supporting Variants
SamplesHG00732
Known GenesFLI1, KCNJ1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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