A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407492



Internal ID22465362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12506108..12506185hg38UCSC Ensembl
chr3:12547607..12547684hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898441
Supporting Variants
Samples
Known GenesTSEN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407492
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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