A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183089



Internal ID20750129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121079469..121328638hg38UCSC Ensembl
chr12:121517272..121766441hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38249170
hg19249170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485374
Supporting Variants
Samples
Known GenesANAPC5, CAMKK2, P2RX4, P2RX7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183089
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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