A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171469



Internal ID22331312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6448622..6450256hg38UCSC Ensembl
chr5:6448735..6450369hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381635
hg191635
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7175n152
Supporting Variantsnssv14399025
SamplesNA19240
Known GenesUBE2QL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171469
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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