A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217247



Internal ID22362968
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270509, nssv14270508
SamplesHG00512, HG00513
Known GenesBCOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217247
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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