A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411403



Internal ID190712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1927200..1927251hg38UCSC Ensembl
chr2:1930972..1931023hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900831
Samples
Known GenesMYT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411403
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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