A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178183



Internal ID20745223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46799919..46800929hg38UCSC Ensembl
chr12:47193702..47194712hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475312
Supporting Variants
Samples
Known GenesSLC38A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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