A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407086



Internal ID186422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108008064..108008115hg38UCSC Ensembl
chr2:108624520..108624571hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918713
Samples
Known GenesSLC5A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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