A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964593



Internal ID22739528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17764040..17786200hg38UCSC Ensembl
chr21:19136357..19158517hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3822161
hg1922161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401263
Samples
Known GenesC21orf91-OT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964593
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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