A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6383n152



Internal ID22822086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1496013..1528606hg38UCSC Ensembl
chr4:1497740..1530333hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3832594
hg1932594
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229599, nsv3223053
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6383n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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