A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999031



Internal ID20566071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39828301..39829100hg38UCSC Ensembl
chr12:40222103..40222902hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462389
Supporting Variants
Samples
Known GenesSLC2A13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999031
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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