A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8613n152



Internal ID22824316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78658227..78692109hg38UCSC Ensembl
chr7:78287543..78321425hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3833883
hg1933883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229370, nsv3210398
SamplesNA19239, NA19240
Known GenesMAGI2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8613n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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