A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276010



Internal ID22303212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158120804..158136939hg38UCSC Ensembl
Outerchr6:158541836..158557971hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3816136
hg1916136
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195807
Supporting Variants
SamplesNA19240
Known GenesSERAC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276010
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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