A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497434



Internal ID274466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46237378..46238290hg38UCSC Ensembl
chr12:46631161..46632073hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38913
hg19913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056720
Samples
Known GenesSLC38A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497434
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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