A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6104978



Internal ID22014212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100972252..100972837hg38UCSC Ensembl
chrX:100227241..100227826hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17643171
Samples
Known GenesARL13A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6104978
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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