A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181053



Internal ID20748093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24276101..24277700hg38UCSC Ensembl
chr12:24429035..24430634hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473966
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181053
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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