A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548244



Internal ID20921440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28740083..28751667hg38UCSC Ensembl
chr22:29136071..29147655hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3811585
hg1911585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204968
Samples
Known GenesCHEK2, HSCB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548244
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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