A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542145



Internal ID20915409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50486769..50596547hg38UCSC Ensembl
chr22:50925198..51034976hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38109779
hg19109779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205733
Samples
Known GenesCHKB, CHKB-AS1, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, ODF3B, SCO2, SYCE3, TYMP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542145
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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