A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488797



Internal ID266093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24141887..24149278hg38UCSC Ensembl
chr10:24430816..24438207hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg387392
hg197392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033821
Samples
Known GenesKIAA1217
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488797
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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