A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10170n152



Internal ID22825873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:79974140..80016275hg38UCSC Ensembl
chrX:79229639..79271774hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3842136
hg1942136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215354, nsv3215824
SamplesHG00512, HG00732, HG00514
Known GenesTBX22
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10170n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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