A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488258



Internal ID21145811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22813596..22823405hg38UCSC Ensembl
chr14:23282805..23292614hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg389810
hg199810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185757
Samples
Known GenesSLC7A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488258
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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