A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270509



Internal ID22136440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40014110..40087050hg38UCSC Ensembl
OuterchrX:39873363..39946303hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381633
hg191633
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217247
Supporting Variants
SamplesHG00513
Known GenesBCOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270509
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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