A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548048



Internal ID20921247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17565260..17568651hg38UCSC Ensembl
chr22:18044971..18048716hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383392
hg193746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18071593
Samples
Known GenesSLC25A18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548048
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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