A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2808397



Internal ID21253735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125034193..125034193hg38UCSC Ensembl
chr3:124753037..124753037hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13705987
Samples
Known GenesHEG1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2808397
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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