A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244997



Internal ID22049607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153571735..153571735hg38UCSC Ensembl
chr5:152951295..152951295hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858611
Samples
Known GenesGRIA1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244997
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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