A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254227



Internal ID22200634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:336372..445877hg38UCSC Ensembl
Outerchr11:336372..445877hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384377
hg194377
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235772
Supporting Variants
SamplesHG00732
Known GenesANO9, B4GALNT4, PKP3, SIGIRR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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