A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450969



Internal ID229162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27203152..27203249hg38UCSC Ensembl
chr2:27426020..27426117hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910651
Samples
Known GenesSLC5A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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