A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457666



Internal ID21115219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46248927..46251095hg38UCSC Ensembl
chr12:46642710..46644878hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382169
hg192169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000459
Samples
Known GenesSLC38A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457666
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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