A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv35n152



Internal ID22815738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2430554..2445861hg38UCSC Ensembl
chr1:2361993..2377300hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3815308
hg1915308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3222240, nsv3212922
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv35n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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