A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5959987



Internal ID22735006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39294484..39309652hg38UCSC Ensembl
chr21:40666410..40681578hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3815169
hg1915169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397619
Samples
Known GenesBRWD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5959987
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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