A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441839



Internal ID22108020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17146287..17146473hg38UCSC Ensembl
chr22:17627177..17627363hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759730
Samples
Known GenesCECR5
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441839
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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