A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270068



Internal ID22188818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148421988..148433557hg38UCSC Ensembl
OuterchrX:147503507..147515076hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3811570
hg1911570
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193082
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270068
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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