A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198168



Internal ID22347931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146554378..146584536hg38UCSC Ensembl
OuterchrX:145635896..145666054hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3830159
hg1930159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268945
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198168
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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