A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967970



Internal ID22742905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60984478..60984478hg38UCSC Ensembl
chr14:61451196..61451196hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379384
Samples
Known GenesSLC38A6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967970
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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