A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898441



Internal ID22673556
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 StatusM
Merged Variants
Supporting Variantsnssv17407492
Samples
Known GenesTSEN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898441
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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