A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253532



Internal ID22199489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:289914..332264hg38UCSC Ensembl
Outerchr11:289914..332264hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3842351
hg1942351
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212700
Supporting Variants
SamplesHG00732
Known GenesATHL1, IFITM1, IFITM2, IFITM3, IFITM5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253532
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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