A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030309



Internal ID87917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13848347..13848425hg38UCSC Ensembl
chr10:13890347..13890425hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476434
Supporting Variants
Samples
Known GenesFRMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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