A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431308



Internal ID22173794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49446536..49446601hg38UCSC Ensembl
chr17:47523898..47523963hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196375
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14431308
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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