A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391442



Internal ID22291061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234207442..234210073hg38UCSC Ensembl
chr1:234343188..234345819hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382632
hg192632
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186197
Supporting Variants
SamplesNA19240
Known GenesSLC35F3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391442
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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