A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450307



Internal ID228517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2319392..2319503hg38UCSC Ensembl
chr2:2323164..2323275hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900870
Samples
Known GenesMYT1L, MYT1L-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450307
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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