A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491046



Internal ID268292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13856847..13856906hg38UCSC Ensembl
chr10:13898847..13898906hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17030310
Samples
Known GenesFRMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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