A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189976



Internal ID20757016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54914801..54923300hg38UCSC Ensembl
chr12:55308585..55317084hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462845
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189976
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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