A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477985



Internal ID255548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24234082..24257944hg38UCSC Ensembl
chr10:24523011..24546873hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg3823863
hg1923863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033833
Samples
Known GenesKIAA1217
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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