A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268838



Internal ID22257287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:36365538..36417684hg38UCSC Ensembl
OuterchrX:36383653..36435797hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3852147
hg1952145
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193542
Supporting Variants
SamplesNA19238
Known GenesCXorf30
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268838
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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