A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205429



Internal ID20772469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190649201..190653600hg38UCSC Ensembl
chr2:191513927..191518326hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343763
Supporting Variants
Samples
Known GenesNAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205429
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00076


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