A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974774



Internal ID22749709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101862315..101862315hg38UCSC Ensembl
chr14:102328652..102328652hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382530
Samples
Known GenesPPP2R5C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974774
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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