A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555850



Internal ID328999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108272701..108272752hg38UCSC Ensembl
chrX:107515931..107515982hg19UCSC Ensembl
CytobandXq22.3
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 Variantsnssv17741886
Samples
Known GenesCOL4A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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