A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967427



Internal ID22742362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12924466..12924466hg38UCSC Ensembl
chrX:12942585..12942585hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446696
Samples
Known GenesTLR8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967427
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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