A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17471549



Internal ID22529440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47181912..47186618hg38UCSC Ensembl
chr16:47215823..47220529hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg384707
hg194707
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884387
Supporting Variants
Samples
Known GenesITFG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17471549
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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