A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568044



Internal ID21516388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:475594..475815hg38UCSC Ensembl
chr7:515231..515452hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17155249
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568044
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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