A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216840



Internal ID22362698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:87062015..87073854hg38UCSC Ensembl
Outerchr10:88821772..88833611hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3811840
hg1911840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279500
SamplesHG00512
Known GenesGLUD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216840
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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