A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6526183



Internal ID20899544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48929573..48936098hg38UCSC Ensembl
chr18:46455943..46462468hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386526
hg196526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181937
Samples
Known GenesSMAD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6526183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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