A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16273247



Internal ID20482465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241482908..241482975hg38UCSC Ensembl
chr2:242422323..242422390hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4737970
Supporting Variants
Samples
Known GenesFARP2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16273247
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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