A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207401



Internal ID20774442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171161401..171164700hg38UCSC Ensembl
chr2:172017911..172021210hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345886
Supporting Variants
Samples
Known GenesTLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207401
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0013


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