A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215620



Internal ID20782660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135359001..135367500hg38UCSC Ensembl
chr6:135680139..135688638hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6608557
Supporting Variants
Samples
Known GenesAHI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215620
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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