A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517731



Internal ID294145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33414772..33423395hg38UCSC Ensembl
chr17:31741790..31750413hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388624
hg198624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712706
Samples
Known GenesASIC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517731
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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