A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5669424



Internal ID21617730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:636548..636725hg38UCSC Ensembl
chrX:597283..597460hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17168204
SamplesHG00512
Known GenesSHOX
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5669424
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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