A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv538n152



Internal ID22816241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207359706..207384242hg38UCSC Ensembl
chr1:207533051..207557587hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3824537
hg1924537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3194023, nsv3192439
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCD55
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv538n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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