A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432748



Internal ID211484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:911791..1273760hg38UCSC Ensembl
chrX:872526..1392653hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38361970
hg19520128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv554n206
Supporting Variantsnssv17738639
Samples
Known GenesCRLF2, CSF2RA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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