A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030319



Internal ID87923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13971330..13971373hg38UCSC Ensembl
chr10:14013330..14013373hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412327
Supporting Variants
Samples
Known GenesFRMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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