A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213873



Internal ID22360682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:80395430..80398616hg38UCSC Ensembl
OuterchrX:79650929..79654115hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269917, nssv14269919, nssv14269918, nssv14269916
SamplesHG00512, NA19238, NA19239, HG00732
Known GenesFAM46D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213873
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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