A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254546



Internal ID22254924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126446846..126448538hg38UCSC Ensembl
Outerchr11:126316741..126318433hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247051
Supporting Variants
SamplesNA19238
Known GenesKIRREL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254546
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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