A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8481n152



Internal ID22824184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38330233..38373352hg38UCSC Ensembl
chr7:38369834..38412953hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3843120
hg1943120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3222380, nsv3223735
SamplesHG00731, HG00732, HG00733
Known GenesTRG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8481n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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