A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6529766



Internal ID20903127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46642903..46683956hg38UCSC Ensembl
chr18:44222866..44263919hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3841054
hg1941054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185110
Samples
Known GenesLOXHD1, ST8SIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6529766
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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