A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193082



Internal ID22343574
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270067, nssv14270070, nssv14270069, nssv14270065, nssv14270066, nssv14270068, nssv14270072, nssv14270071, nssv14270073
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193082
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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