A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430803



Internal ID209598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134490459..134490514hg38UCSC Ensembl
chrX:133624489..133624544hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742435
Samples
Known GenesHPRT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430803
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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