A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223147



Internal ID20790187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67590301..67727100hg38UCSC Ensembl
chr9:44737462..46391453hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38136800
hg191653992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6437453
Supporting Variants
Samples
Known GenesFAM27A, FAM27C, FAM27E1, FAM27E2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223147
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0012


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