A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517310



Internal ID20890671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35660728..35669477hg38UCSC Ensembl
chr19:36151630..36160379hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg388750
hg198750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18046304
Samples
Known GenesUPK1A, UPK1A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517310
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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