A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139089



Internal ID338273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68358400..68367400hg38UCSC Ensembl
chrX:67578242..67587242hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740524
Samples
Known GenesOPHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139089
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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