A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409715



Internal ID189035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114658771..114658771hg38UCSC Ensembl
chr1:115201392..115201392hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889618
Samples
Known GenesDENND2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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