A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616194



Internal ID21564499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:356822..356822hg38UCSC Ensembl
chrX:317557..317557hg19UCSC 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 Variantsnssv17166831, nssv17166832
SamplesHG00512, NA19238
Known GenesPPP2R3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616194
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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