A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5434n152



Internal ID22821137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9798721..9848680hg38UCSC Ensembl
chr4_gl000193_random:66035..115994hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3849960
hg1949960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3239637, nsv3235378, nsv3246678, nsv3234301
SamplesHG00512, NA19238, NA19239, HG00731, 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)dgv5434n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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