A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404943



Internal ID22326859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30359266..30359333hg38UCSC Ensembl
chr17:28686284..28686351hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206179
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404943
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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