A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975126



Internal ID22750061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29560547..29560547hg38UCSC Ensembl
chr21:30932868..30932868hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392455
Samples
Known GenesGRIK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975126
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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