A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471898



Internal ID249622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139062838..139113688hg38UCSC Ensembl
chr5:138398527..138449377hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3850851
hg1950851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976081
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471898
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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