A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10285n152



Internal ID22825988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129784903..129785052hg38UCSC Ensembl
chrX:128918879..128919028hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3192713, nsv3526079
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSASH3
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)dgv10285n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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