A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425066



Internal ID22164780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6448622..6450257hg38UCSC Ensembl
chr5:6448735..6450370hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381636
hg191636
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181685
Supporting Variants
SamplesHG00514
Known GenesUBE2QL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425066
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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