A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7529n152



Internal ID22823232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133797918..133817660hg38UCSC Ensembl
chr5:133133609..133153351hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3819743
hg1919743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3194659, nsv3198855
SamplesNA19238, HG00731, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7529n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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