A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243044



Internal ID22047654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148112561..148112561hg38UCSC Ensembl
chrX:147194081..147194081hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851698
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243044
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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