A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941252



Internal ID22716673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33126036..33126109hg38UCSC Ensembl
chr19:33616942..33617015hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399700
Samples
Known GenesGPATCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941252
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