A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594831



Internal ID21543431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102410270..102411729hg38UCSC Ensembl
chr14:102876607..102878066hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084890
SamplesNA18534
Known GenesTECPR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594831
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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