A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456933



Internal ID22214290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82081885..82081943hg38UCSC Ensembl
chr17:80039761..80039819hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205443
Supporting Variants
SamplesHG00733
Known GenesFASN
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456933
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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