A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030307



Internal ID87915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13840825..13858899hg38UCSC Ensembl
chr10:13882825..13900899hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3818075
hg1918075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490649
Supporting Variants
Samples
Known GenesFRMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030307
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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