A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480973



Internal ID21138526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20745538..20748869hg38UCSC Ensembl
chr14:21213697..21217028hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg383332
hg193332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016568
Samples
Known GenesEDDM3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480973
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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