A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447268



Internal ID22242882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28490564..28490716hg38UCSC Ensembl
chr17:26817582..26817734hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196547
Supporting Variants
SamplesHG00733
Known GenesSLC13A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447268
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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