A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268341



Internal ID22258102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90308798..90326700hg38UCSC Ensembl
OuterchrX:89563797..89581699hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3817903
hg1917903
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191330
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268341
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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