A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv623n152



Internal ID22816326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236707563..236722016hg38UCSC Ensembl
chr1:236870863..236885316hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3814454
hg1914454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223393, nsv3227611
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesACTN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv623n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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