A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2808427



Internal ID21253765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139583496..139583496hg38UCSC Ensembl
chr3:139302338..139302338hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13682344
Samples
Known GenesNMNAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2808427
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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