A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212700



Internal ID22359867
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253532
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)nsv3212700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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