A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205181



Internal ID20772221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86544094..86624224hg38UCSC Ensembl
chr1:87009777..87089907hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3880131
hg1980131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325121
Supporting Variants
Samples
Known GenesCLCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205181
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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