A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214418



Internal ID22361083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85543649..85584480hg38UCSC Ensembl
OuterchrX:84798654..84839485hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270596
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214418
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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