A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714241



Internal ID137907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68893715..69642424hg38UCSC Ensembl
chr17:66889856..67638565hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38748710
hg19748710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518027
Supporting Variants
Samples
Known GenesABCA10, ABCA5, ABCA6, ABCA8, ABCA9, MAP2K6, MIR4524A, MIR4524B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714241
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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