A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204233



Internal ID22353114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139440096..139454996hg38UCSC Ensembl
Outerchr5:138775785..138787073hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3814901
hg1911289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273388, nssv14273389, nssv14273387
SamplesHG00512, HG00732, HG00513
Known GenesECSCR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204233
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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