A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6528590



Internal ID20901951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51029701..51031300hg38UCSC Ensembl
chr18:48556071..48557670hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181750
Samples
Known GenesSMAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6528590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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