A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972584



Internal ID22747519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101924445..101924445hg38UCSC Ensembl
chr14:102390782..102390782hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371733
Samples
Known GenesPPP2R5C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972584
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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