A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406272



Internal ID22464142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133446570..133446627hg38UCSC Ensembl
chr3:133165414..133165471hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893947
Supporting Variants
Samples
Known GenesBFSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406272
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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