A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10030n152



Internal ID22825733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9730207..9730377hg38UCSC Ensembl
chrX:9698247..9698417hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3191565, nsv3526135
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesGPR143
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)dgv10030n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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