A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6522403



Internal ID20895764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80247463..80351462hg38UCSC Ensembl
chr17:78221262..78325262hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38104000
hg19104001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191274
Samples
Known GenesRNF213, SLC26A11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6522403
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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