A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1670n223



Internal ID22804638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101197001..101199500hg38UCSC Ensembl
chr12:101590779..101593278hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6466274, nsv6473732
Samples
Known GenesSLC5A8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1670n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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