A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv547n152



Internal ID22816250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214831082..214898244hg38UCSC Ensembl
chr1:215004425..215071587hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3867163
hg1967163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213650, nsv3229793
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv547n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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