A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223495



Internal ID20790535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42530734..42531925hg38UCSC Ensembl
chr8:42385877..42387068hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431406
Supporting Variants
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223495
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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