A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425210



Internal ID22164983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362758..193362758hg38UCSC Ensembl
chr3:193080547..193080547hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535780
Supporting Variants
SamplesHG00514
Known GenesATP13A5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425210
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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