A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6497513



Internal ID20870720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88702145..89001510hg38UCSC Ensembl
chr14:89168489..89467854hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38299366
hg19299366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177215
Samples
Known GenesEML5, TTC8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6497513
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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