A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192426



Internal ID22343013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:51999906..52049686hg38UCSC Ensembl
Outerchr5:51295740..51345520hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3849781
hg1949781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273669
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192426
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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