A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960083



Internal ID22721948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:356824..356824hg38UCSC Ensembl
chrX:317559..317559hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17453551
Samples
Known GenesPPP2R3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960083
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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