A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189588



Internal ID20756628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130811694..130855214hg38UCSC Ensembl
chr12:131296239..131339759hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3843521
hg1943521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6486783
Supporting Variants
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189588
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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