A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3933214



Internal ID21353284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139583495..139583495hg38UCSC Ensembl
chr3:139302337..139302337hg19UCSC 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 Variantsnssv15188464
SamplesHG002
Known GenesNMNAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3933214
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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