A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199581



Internal ID22349146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2222989..2298786hg38UCSC Ensembl
OuterchrX:2141030..2216827hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3875798
hg1975798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268305, nssv14268300, nssv14268302, nssv14268301, nssv14268303, nssv14268299, nssv14268297, nssv14268304, nssv14268298
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDHRSX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199581
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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