A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10144n152



Internal ID22825847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68325584..68327803hg38UCSC Ensembl
chrX:67545426..67547645hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3525310, nsv3199338
SamplesNA19238, NA19239, NA19240
Known GenesOPHN1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10144n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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