A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400469



Internal ID22458339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112580706..112582668hg38UCSC Ensembl
chr3:112299553..112301515hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381963
hg191963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906297
Supporting Variants
Samples
Known GenesSLC35A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400469
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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