A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875404



Internal ID22650361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2301031..2301117hg38UCSC Ensembl
chr2:2304803..2304889hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394244
Samples
Known GenesMYT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875404
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer