A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359541



Internal ID22585210
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 StatusS
Merged Variantsnsv5935200
Supporting Variants
Samples
Known GenesSLC38A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359541
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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