A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7932n152



Internal ID22823635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64268852..64299891hg38UCSC Ensembl
chr6:64978745..65009784hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3831040
hg1931040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3212412, nsv3225595
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7932n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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