A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269264



Internal ID22281357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154590912..154613506hg38UCSC Ensembl
OuterchrX:153819175..153841759hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3822595
hg1922585
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201322
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269264
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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