A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396210



Internal ID175630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231440172..231440223hg38UCSC Ensembl
chr2:232304883..232304934hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926941
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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