A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478574



Internal ID256126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46058265..46142265hg38UCSC Ensembl
chr10:51453557..51537557hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3884001
hg1984001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034519
Samples
Known GenesAGAP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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