A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499275



Internal ID276249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112693452..112693998hg38UCSC Ensembl
chr10:114453211..114453757hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17038169
Samples
Known GenesVTI1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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