A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216217



Internal ID20783257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33944257..34753777hg38UCSC Ensembl
chr5:33944362..34753882hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38809521
hg19809521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6380333
Supporting Variants
Samples
Known GenesAMACR, C1QTNF3, C1QTNF3-AMACR, RAI14, SLC45A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216217
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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