A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191858



Internal ID20758898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31042402..31201130hg38UCSC Ensembl
chr12:31195336..31354064hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38158729
hg19158729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464495
Supporting Variants
Samples
Known GenesDDX11, DDX11-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191858
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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