A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8690n152



Internal ID22824393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103157261..103174727hg38UCSC Ensembl
chr7:102797708..102815174hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3817467
hg1917467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226524, nsv3211089
SamplesNA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8690n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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