A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418316



Internal ID197490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134605243..134605961hg38UCSC Ensembl
chrX:133739273..133739991hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742442
Samples
Known GenesPLAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418316
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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