A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv426n152



Internal ID22816129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153208741..153268701hg38UCSC Ensembl
chr1:153181217..153241177hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3859961
hg1959961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226384, nsv3226615
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesLOR, PRR9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv426n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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