A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268302



Internal ID22224957
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199581
Supporting Variants
SamplesHG00733
Known GenesDHRSX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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