A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937867



Internal ID22713241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8259240..8260960hg38UCSC Ensembl
chr17:8162558..8164278hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381721
hg191721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379786
Samples
Known GenesPFAS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937867
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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