A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549240



Internal ID20922408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29755289..29772715hg38UCSC Ensembl
chr22:30151278..30168704hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3817427
hg1917427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204983
Samples
Known GenesUQCR10, ZMAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549240
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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