A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18093412



Internal ID20660452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12506108..12506186hg38UCSC Ensembl
chr3:12547607..12547685hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370197
Supporting Variants
Samples
Known GenesTSEN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18093412
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01883


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