A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433324



Internal ID22176250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219959303..219962021hg38UCSC Ensembl
chr1:220132645..220135363hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382719
hg192719
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184902
Supporting Variants
SamplesHG00514
Known GenesRNU5F-1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433324
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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