A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213280



Internal ID20780320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149850618..149890636hg38UCSC Ensembl
chr5:149230181..149270199hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3840019
hg1940019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400754
Supporting Variants
Samples
Known GenesPDE6A, PPARGC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213280
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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