A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6516257



Internal ID20889618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49791101..49817700hg38UCSC Ensembl
chr18:47317471..47344070hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3826600
hg1926600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195665
Samples
Known GenesACAA2, SCARNA17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6516257
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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