A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550856



Internal ID20923997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50476116..50511145hg38UCSC Ensembl
chr22:50914545..50949574hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3835030
hg1935030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205732
Samples
Known GenesADM2, LMF2, MIOX, NCAPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550856
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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