A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3930381



Internal ID21350450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80147047..80147047hg38UCSC Ensembl
chr17:78120846..78120846hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15185788
SamplesHG002
Known GenesEIF4A3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3930381
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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