A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6537990



Internal ID20911317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31424381..31449279hg38UCSC Ensembl
chr22:31820367..31845265hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3824899
hg1924899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205016
Samples
Known GenesDRG1, EIF4ENIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6537990
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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