A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2818529



Internal ID21263867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42347250..42347250hg38UCSC Ensembl
chr8:42204768..42204768hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13711333
Samples
Known GenesPOLB
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2818529
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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