A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423683



Internal ID202697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:78469593..78491750hg38UCSC Ensembl
chrX:77725090..77747247hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3822158
hg1922158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740908
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423683
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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