A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001209



Internal ID20568249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49589801..49592400hg38UCSC Ensembl
chr12:49983584..49986183hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472349
Supporting Variants
Samples
Known GenesFAM186B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001209
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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