A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411299



Internal ID22469169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53031100..53031290hg38UCSC Ensembl
chr3:53065116..53065306hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895018
Supporting Variants
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411299
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