A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6520209



Internal ID20893570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63932801..64046100hg38UCSC Ensembl
chr18:61600035..61713334hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38113300
hg19113300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177921
Samples
Known GenesHMSD, SERPINB10, SERPINB8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6520209
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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