A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252311



Internal ID22056921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12311738..12311738hg38UCSC Ensembl
chrX:12329857..12329857hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851458
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252311
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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