A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428189



Internal ID207068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16739344..16739514hg38UCSC Ensembl
chrX:16757467..16757637hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739446
Samples
Known GenesSYAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428189
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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