A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183698



Internal ID22337760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130091232..130091455hg38UCSC Ensembl
chr3:129810075..129810298hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451592, nssv14424009
SamplesHG00733, HG00514
Known GenesALG1L2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3183698
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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