A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200588



Internal ID22350012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16319692..16331193hg38UCSC Ensembl
Outerchr1:16646187..16657688hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811502
hg1911502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257979
SamplesHG00732
Known GenesFBXO42
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200588
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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