A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999399



Internal ID20566439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1792384..1795435hg38UCSC Ensembl
chr12:1901550..1904601hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383052
hg193052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468205
Supporting Variants
Samples
Known GenesCACNA2D4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999399
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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