A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375271



Internal ID22600940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41610661..41610661hg38UCSC Ensembl
chr14:42079864..42079864hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971331
Supporting Variants
Samples
Known GenesLRFN5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375271
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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