A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199867



Internal ID22349398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44786677..44814660hg38UCSC Ensembl
Outerchr1:45252349..45280332hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3827984
hg1927984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256555
SamplesNA19238
Known GenesBEST4, BTBD19, PLK3, TCTEX1D4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199867
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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