A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447269



Internal ID22242883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28578346..28579041hg38UCSC Ensembl
chr17:26905364..26906059hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193536
Supporting Variants
SamplesHG00733
Known GenesSPAG5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447269
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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