A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504377



Internal ID281181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103684068..103684135hg38UCSC Ensembl
chr10:105443826..105443893hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040966
Samples
Known GenesSH3PXD2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504377
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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