A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436890



Internal ID22180069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158701318..158701395hg38UCSC Ensembl
chr5:158128326..158128403hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183447
Supporting Variants
SamplesHG00514
Known GenesEBF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14436890
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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