A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427628



Internal ID206529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31027769..31598469hg38UCSC Ensembl
chrX:31045886..31616586hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38570701
hg19570701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739834
Samples
Known GenesDMD, FTHL17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427628
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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