A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2032n152



Internal ID22817735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123428168..123474288hg38UCSC Ensembl
chr12:123912715..123958835hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3846121
hg1946121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3231121, nsv3243636
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRILPL1, RILPL2, SNRNP35
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2032n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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