A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421078



Internal ID200166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70007826..70007904hg38UCSC Ensembl
chrX:69227676..69227754hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740590
Samples
Known GenesEDA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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