A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501372



Internal ID278271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132327280..132551276hg38UCSC Ensembl
chr10:134140784..134364780hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38223997
hg19223997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042340
Samples
Known GenesC10orf91, INPP5A, LRRC27, PWWP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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