A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227848



Internal ID20794888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21737252..21854481hg38UCSC Ensembl
chr8:21594764..21711992hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38117230
hg19117229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423269
Supporting Variants
Samples
Known GenesGFRA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227848
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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