A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198982



Internal ID22348638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146848145..146866111hg38UCSC Ensembl
OuterchrX:145929663..145947629hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3817967
hg1917967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270060, nssv14270058, nssv14270056, nssv14270061, nssv14270057, nssv14270059
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198982
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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