A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412316



Internal ID191618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65010482..65010533hg38UCSC Ensembl
chr2:65237616..65237667hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914580
Samples
Known GenesSLC1A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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