A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711241



Internal ID134907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8137111..8261111hg38UCSC Ensembl
chr17:8040429..8164429hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38124001
hg19124001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146073
Supporting Variants
Samples
Known GenesAURKB, C17orf59, CTC1, LINC00324, MIR4521, MIR6883, PER1, PFAS, TMEM107, VAMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711241
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000946


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