A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996688



Internal ID20563729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101197401..101198500hg38UCSC Ensembl
chr12:101591179..101592278hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469998
Supporting Variants
Samples
Known GenesSLC5A8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996688
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00062


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