A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8331n152



Internal ID22824034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:863706..944895hg38UCSC Ensembl
chr7:903343..984531hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3881190
hg1981189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229292, nsv3227413
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADAP1, GET4, SUN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8331n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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