A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193105



Internal ID20760145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42619501..42675600hg38UCSC Ensembl
chr12:43013303..43069402hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3856100
hg1956100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467715
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193105
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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