A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048333



Internal ID21957566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40616727..40616947hg38UCSC Ensembl
chr21:41988653..41988873hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17642855
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048333
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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