A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10026n152



Internal ID22825729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9380465..9422133hg38UCSC Ensembl
chrX:9348505..9390173hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3841669
hg1941669
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213356, nsv3217208
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10026n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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