A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180576



Internal ID20747616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27128016..27639839hg38UCSC Ensembl
chr12:27280949..27792772hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38511824
hg19511824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462126
Supporting Variants
Samples
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180576
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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