A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254535



Internal ID22271124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126222213..126280185hg38UCSC Ensembl
Outerchr11:126092108..126150080hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384070
hg194070
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233893
Supporting Variants
SamplesNA19239
Known GenesFAM118B, FOXRED1, SRPR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254535
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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