A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948741



Internal ID21368810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36810878..36810878hg38UCSC Ensembl
chr14:37280083..37280083hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15193638
SamplesHG002
Known GenesSLC25A21
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948741
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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