A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187472



Internal ID22339745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168850169..168850272hg38UCSC Ensembl
chr1:168819407..168819510hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440682
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187472
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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