A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407113



Internal ID22306204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70450328..70450379hg38UCSC Ensembl
chr17:68446469..68446520hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201726
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)nssv14407113
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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