A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976259



Internal ID22751194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57262745..57262745hg38UCSC Ensembl
chr14:57729463..57729463hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374105
Samples
Known GenesEXOC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976259
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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