A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6522179



Internal ID20895540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46843259..46914923hg38UCSC Ensembl
chr19:47346516..47418180hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3871665
hg1971665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198929
Samples
Known GenesAP2S1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6522179
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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