A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6549n152



Internal ID22822252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:35198661..35294786hg38UCSC Ensembl
chr4:35200283..35296408hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3896126
hg1996126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3206681, nsv3195984
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6549n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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