A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478920



Internal ID21136473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23166948..23178331hg38UCSC Ensembl
chr14:23636157..23647540hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3811384
hg1911384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182849
Samples
Known GenesSLC7A8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478920
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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