A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215194



Internal ID22361606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:21152771..21161556hg38UCSC Ensembl
Outerchr10:21441700..21450485hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg388786
hg198786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277915, nssv14277914
SamplesNA19240, HG00733
Known GenesNEBL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215194
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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