A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9854n152



Internal ID22825557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137813742..137857266hg38UCSC Ensembl
chr9:140708194..140751718hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3843525
hg1943525
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3242124, nsv3239663
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEHMT1, MIR602
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9854n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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