A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17495454



Internal ID22553387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:79615847..79622546hg38UCSC Ensembl
chr3:79664997..79671696hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836829
Supporting Variants
Samples
Known GenesROBO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17495454
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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