A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441678



Internal ID22107859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40214938..40215263hg38UCSC Ensembl
chr21:41586865..41587190hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763838
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441678
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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