A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199774



Internal ID22349315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177062920..177072105hg38UCSC Ensembl
Outerchr5:176489921..176499106hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg389186
hg199186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274706, nssv14274707
SamplesHG00732, HG00733
Known GenesZNF346
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199774
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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