A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945942



Internal ID21366011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64822373..64822373hg38UCSC Ensembl
chr14:65289091..65289091hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194425
SamplesHG002
Known GenesSPTB
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945942
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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