A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406066



Internal ID185407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2304370..2304373hg38UCSC Ensembl
chr2:2308142..2308145hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900867
Samples
Known GenesMYT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406066
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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