A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6356272



Internal ID21013825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:989813..1058376hg38UCSC Ensembl
chr4:983601..1052164hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3868564
hg1968564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214407
Samples
Known GenesFGFRL1, IDUA, SLC26A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6356272
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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