A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2807546



Internal ID21252884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49746433..49746433hg38UCSC Ensembl
chr3:49783866..49783866hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13683595, nssv13688189
Samples
Known GenesIP6K1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2807546
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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