A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6993n152



Internal ID22822696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182825141..182843217hg38UCSC Ensembl
chr4:183746294..183764370hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3818077
hg1918077
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214205, nsv3221714
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6993n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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