A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473291



Internal ID21130844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18073650..18151910hg38UCSC Ensembl
chr12:18226584..18304844hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3878261
hg1978261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1437n223
Supporting Variantsnssv17999425
Samples
Known GenesRERGL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473291
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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