A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538757



Internal ID313805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46200442..46200483hg38UCSC Ensembl
chr12:46594225..46594266hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056719
Samples
Known GenesSLC38A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538757
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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