A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6394517



Internal ID21052070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32195713..32417750hg38UCSC Ensembl
chr5:32195819..32417855hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38222038
hg19222037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216203
Samples
Known GenesMTMR12, ZFR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6394517
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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