A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950367



Internal ID22725771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36003152..36107398hg38UCSC Ensembl
chr21:37375450..37479696hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38104247
hg19104247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392118
Samples
Known GenesCBR1, LOC100133286, SETD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950367
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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