A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418970



Internal ID198121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66230542..66236542hg38UCSC Ensembl
chrX:65450384..65456384hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740420
Samples
Known GenesHEPH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418970
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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