A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6360166



Internal ID21017719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:999035..1186087hg38UCSC Ensembl
chr4:992823..1179875hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38187053
hg19187053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214422
Samples
Known GenesFGFRL1, IDUA, RNF212, SPON2, TMED11P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6360166
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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