A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178915



Internal ID22335261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45506389..45506980hg38UCSC Ensembl
chr3:45547881..45548472hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423436
SamplesHG00514
Known GenesLARS2, LARS2-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3178915
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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