A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5591637



Internal ID21540214
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 Variantsnssv17080280
SamplesNA19239
Known GenesSLC38A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5591637
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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