A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268351



Internal ID22121828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:96020819..96072340hg38UCSC Ensembl
OuterchrX:95275818..95327339hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3851522
hg1951522
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194689
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268351
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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