A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6384n152



Internal ID22822087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1509839..1549845hg38UCSC Ensembl
chr4:1511566..1551572hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3840007
hg1940007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3208091, nsv3190581
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6384n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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