A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195807



Internal ID22345925
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276008, nssv14276005, nssv14276010, nssv14276009, nssv14276007, nssv14276004, nssv14276006
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513
Known GenesSERAC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195807
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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