A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706703



Internal ID130369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1694000..1702000hg38UCSC Ensembl
chr16:1744001..1752001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145447
Supporting Variants
Samples
Known GenesHN1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000477


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