A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269059



Internal ID22273980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40032923..40052797hg38UCSC Ensembl
OuterchrX:39892176..39912050hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228131
Supporting Variants
SamplesNA19239
Known GenesBCOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269059
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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