A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17570348



Internal ID21762391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160127161..160127161hg38UCSC Ensembl
chr6:160548193..160548193hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6061589
Supporting Variants
Samples
Known GenesSLC22A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17570348
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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