A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215942



Internal ID22362102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60942865..60965476hg38UCSC Ensembl
Outerchr8:61855424..61878035hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg3822612
hg1922612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279060, nssv14279061
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215942
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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