A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414370



Internal ID193652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132211381..132319381hg38UCSC Ensembl
chrX:131345409..131453409hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38108001
hg19108001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742361
Samples
Known GenesRAP2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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