A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854005



Internal ID22037648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215412770..215412770hg38UCSC Ensembl
chr2:216277493..216277493hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253370
Supporting Variants
Samples
Known GenesFN1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854005
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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