A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10121n152



Internal ID22825824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50050895..50061678hg38UCSC Ensembl
chrX:49815504..49826335hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3810784
hg1910832
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214192, nsv3216391
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCLCN5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10121n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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