A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253255



Internal ID22273411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1425610..1433783hg38UCSC Ensembl
Outerchr11:1446840..1455013hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388174
hg198174
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213524
Supporting Variants
SamplesNA19239
Known GenesBRSK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253255
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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