A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246478



Internal ID22376429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:884309..972471hg38UCSC Ensembl
Outerchr16:934309..1022471hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384958
hg194958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260167, nssv14260169, nssv14260051, nssv14260052, nssv14260168
SamplesNA19238, NA19239, HG00732, NA19240, HG00513
Known GenesLMF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246478
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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