A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424469



Internal ID22163897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174320516..174323150hg38UCSC Ensembl
chr4:175241667..175244301hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg382635
hg192635
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177969
Supporting Variants
SamplesHG00514
Known GenesCEP44
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424469
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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