A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6516597



Internal ID20889958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75208101..75212100hg38UCSC Ensembl
chr18:72920056..72924055hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197198
Samples
Known GenesTSHZ1, ZADH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6516597
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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