A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420573



Internal ID199672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33075370..33075421hg38UCSC Ensembl
chr17:31402388..31402439hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712690
Samples
Known GenesASIC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420573
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