A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212324



Internal ID22359611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:50274660..50330182hg38UCSC Ensembl
Outerchr8:51187220..51242742hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3855523
hg1955523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278864, nssv14278863
SamplesHG00513, HG00514
Known GenesSNTG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212324
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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