A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193084



Internal ID22343576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:134264514..134273370hg38UCSC Ensembl
Outerchr6:134585652..134594508hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg388857
hg198857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275648, nssv14275647, nssv14275649
SamplesNA19238, NA19240, HG00513
Known GenesSGK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193084
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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