A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6525846



Internal ID20899207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46782084..46917902hg38UCSC Ensembl
chr19:47285341..47421159hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38135819
hg19135819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198922
Samples
Known GenesAP2S1, SLC1A5, SNAR-E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6525846
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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