A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196288



Internal ID22346327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62169465..62209996hg38UCSC Ensembl
Outerchr1:62635137..62675668hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3840532
hg1940532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256264, nssv14256265
SamplesHG00732, HG00513
Known GenesL1TD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196288
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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