A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182144



Internal ID20749184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112567654..112569808hg38UCSC Ensembl
chr12:113005458..113007612hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg382155
hg192155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485007
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182144
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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