A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6385388



Internal ID21042941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:336713..540540hg38UCSC Ensembl
chr5:336828..540655hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38203828
hg19203828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216215
Samples
Known GenesAHRR, C5orf55, EXOC3, MIR4456, PP7080, SLC9A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6385388
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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