A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560849



Internal ID333844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11145117..11148889hg38UCSC Ensembl
chr2:11285243..11289015hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383773
hg193773
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909474
Samples
Known GenesC2orf50
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560849
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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