A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952310



Internal ID22680095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78906796..78906796hg38UCSC Ensembl
chr7:78536112..78536112hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448773
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952310
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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