A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472709



Internal ID21130262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101191921..101192530hg38UCSC Ensembl
chr12:101585699..101586308hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996686
Samples
Known GenesSLC5A8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472709
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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