A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935200



Internal ID22710538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46237377..46238289hg38UCSC Ensembl
chr12:46631160..46632072hg19UCSC 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 Variantsnssv17359541
Samples
Known GenesSLC38A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935200
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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