A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478864



Internal ID21136417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52705056..52710238hg38UCSC Ensembl
chr14:53171774..53176956hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385183
hg195183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180696
Samples
Known GenesPSMC6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478864
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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