A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270593



Internal ID22136468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:69501109..69510018hg38UCSC Ensembl
OuterchrX:68720952..68729861hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212176
Supporting Variants
SamplesHG00513
Known GenesFAM155B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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