A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199110



Internal ID22348741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40395489..40401569hg38UCSC Ensembl
Outerchr6:40363228..40369308hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg386081
hg196081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274816
SamplesHG00732
Known GenesLRFN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199110
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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