A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182548



Internal ID20749588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132886301..132889400hg38UCSC Ensembl
chr12:133462887..133465986hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494047
Supporting Variants
Samples
Known GenesCHFR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182548
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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