A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424009



Internal ID22163223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130091232..130091455hg38UCSC Ensembl
chr3:129810075..129810298hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183698
Supporting Variants
SamplesHG00514
Known GenesALG1L2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424009
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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