A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254441



Internal ID22187076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58818003..58880091hg38UCSC Ensembl
Outerchr11:58585476..58647564hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3862089
hg1962089
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212846
Supporting Variants
SamplesHG00731
Known GenesGLYATL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254441
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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