A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484972



Internal ID262371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:2613782..3185857hg38UCSC Ensembl
chr10:2655974..3228049hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38572076
hg19572076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv38n206
Supporting Variantsnssv17029352
Samples
Known GenesPFKP, PITRM1, PITRM1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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