A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979077



Internal ID22754012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30895079..30895079hg38UCSC Ensembl
chr14:31364285..31364285hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370527
Samples
Known GenesSTRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979077
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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