A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268363



Internal ID22258702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100249162..100280273hg38UCSC Ensembl
OuterchrX:99504160..99535271hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3831112
hg1931112
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200994
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268363
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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