A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451318



Internal ID229503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5548750..5555269hg38UCSC Ensembl
chr2:5688882..5695401hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386520
hg196520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv262n206
Supporting Variantsnssv16908998
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451318
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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