A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875142



Internal ID22650098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:96989978..96995733hg38UCSC Ensembl
chrX:96244977..96250732hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg385756
hg195756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17451906
Samples
Known GenesDIAPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875142
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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