A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235772



Internal ID22373388
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254225, nssv14254226, nssv14254228, nssv14254224, nssv14254229, nssv14254227, nssv14254230
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesANO9, B4GALNT4, PKP3, SIGIRR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235772
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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