A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6386584



Internal ID21044137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12418..300861hg38UCSC Ensembl
chr5:12418..300976hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38288444
hg19288559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5581n223
Supporting Variantsnssv18213159
Samples
Known GenesCCDC127, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6386584
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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