A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6376924



Internal ID21034477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:383401..984000hg38UCSC Ensembl
chr5:383516..984115hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38600600
hg19600600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5586n223
Supporting Variantsnssv18213448
Samples
Known GenesAHRR, BRD9, C5orf55, CEP72, EXOC3, LOC100996325, MIR4456, PP7080, SLC9A3, TPPP, TRIP13, ZDHHC11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6376924
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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