A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908028



Internal ID6141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110175019..110175070hg38UCSC Ensembl
chr1:110717641..110717692hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406369
Supporting Variants
Samples
Known GenesSLC6A17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908028
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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