A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10286n152



Internal ID22825989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130405824..130406155hg38UCSC Ensembl
chrX:129539798..129540129hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3273146, nsv3558639
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesRBMX2
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)dgv10286n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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