A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976298



Internal ID22751233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41378225..41378225hg38UCSC Ensembl
chr21:42750152..42750152hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402894
Samples
Known GenesMX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976298
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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