A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206608



Internal ID20773648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138832630..138847207hg38UCSC Ensembl
chr2:139590200..139604777hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3814578
hg1914578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354861
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206608
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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