A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276693



Internal ID22135719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18391141..18405408hg38UCSC Ensembl
Outerchr6:18391372..18405639hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3814268
hg1914268
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192023
Supporting Variants
SamplesHG00513
Known GenesRNF144B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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