A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430372



Internal ID209182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139070008..139074250hg38UCSC Ensembl
chrX:138152170..138156412hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg384243
hg194243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742634
Samples
Known GenesFGF13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430372
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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