A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352551



Internal ID21010104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171726374..171726856hg38UCSC Ensembl
chr2:172582884..172583366hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080395
Samples
Known GenesDYNC1I2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352551
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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