A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226538



Internal ID22369306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:69473705..69502783hg38UCSC Ensembl
OuterchrX:68693548..68722626hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg386038
hg196038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269894, nssv14269893, nssv14269896, nssv14269895
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226538
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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