A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198137



Internal ID22347907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:145968877..146041858hg38UCSC Ensembl
OuterchrX:145050395..145123376hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3872982
hg1972982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269261, nssv14269260
SamplesNA19239, HG00513
Known GenesMIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198137
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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