A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999541



Internal ID20566581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14670895..14673299hg38UCSC Ensembl
chr12:14823829..14826233hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382405
hg192405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475530
Supporting Variants
Samples
Known GenesGUCY2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999541
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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