A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969494



Internal ID22744429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56139950..56139950hg38UCSC Ensembl
chr14:56606668..56606668hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384959
Samples
Known GenesPELI2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969494
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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