A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423549



Internal ID202565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37577734..37577785hg38UCSC Ensembl
chr19:38068636..38068687hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723196
Samples
Known GenesZNF540, ZNF571, ZNF571-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423549
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