A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554062



Internal ID20927171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29387561..29393967hg38UCSC Ensembl
chr22:29783550..29789956hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386407
hg196407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204973
Samples
Known GenesAP1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554062
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer