A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6538705



Internal ID20912019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32130290..32170601hg38UCSC Ensembl
chr22:32526277..32566588hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3840312
hg1940312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205027
Samples
Known GenesAP1B1P1, C22orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6538705
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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