A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524984



Internal ID22394359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147231729..147231836hg38UCSC Ensembl
chrX:146313247..146313354hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354123
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524984
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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