A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550267



Internal ID20923416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41549556..41590685hg38UCSC Ensembl
chr22:41945560..41986689hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3841130
hg1941130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206822
Samples
Known GenesCSDC2, PMM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550267
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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