A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048438



Internal ID21957671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100972265..100972265hg38UCSC Ensembl
chrX:100227254..100227254hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17646881
Samples
Known GenesARL13A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048438
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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