A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414719



Internal ID193987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21180830..21180878hg38UCSC Ensembl
chr17:21084143..21084191hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712148
Samples
Known GenesDHRS7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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