A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213869



Internal ID20780909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169674701..169682200hg38UCSC Ensembl
chr4:170595852..170603351hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6383504
Supporting Variants
Samples
Known GenesCLCN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213869
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00026


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