A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254563



Internal ID22271066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126792471..126801571hg38UCSC Ensembl
Outerchr11:126662366..126671466hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242654
Supporting Variants
SamplesNA19239
Known GenesKIRREL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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