A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8920n152



Internal ID22824623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158253761..158374210hg38UCSC Ensembl
chr7:158046453..158166902hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38120450
hg19120450
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214914, nsv3227209, nsv3229760
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8920n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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