A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191125



Internal ID20758165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104796501..104812600hg38UCSC Ensembl
chr12:105190279..105206378hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3816100
hg1916100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475213
Supporting Variants
Samples
Known GenesSLC41A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191125
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00844


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