A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430552



Internal ID209357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:96885233..96888087hg38UCSC Ensembl
chrX:96140232..96143086hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg382855
hg192855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737080
Samples
Known GenesDIAPH2, RPA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430552
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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