A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466217



Internal ID244062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146408337..146411704hg38UCSC Ensembl
chr4:147329489..147332856hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg383368
hg193368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956603
Samples
Known GenesMIR7849, SLC10A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466217
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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