A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999683



Internal ID20566723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1839745..1875486hg38UCSC Ensembl
chr12:1948911..1984652hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835742
hg1935742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458034
Supporting Variants
Samples
Known GenesCACNA2D4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999683
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00054


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