A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9798n152



Internal ID22825501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134649519..134691202hg38UCSC Ensembl
chr9:137541365..137583048hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3841684
hg1941684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3231213, nsv3235314
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known GenesCOL5A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9798n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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