A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430273



Internal ID209087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109395853..109396559hg38UCSC Ensembl
chrX:108639082..108639788hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741928
Samples
Known GenesGUCY2F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430273
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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