A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414436



Internal ID22149850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234207442..234210431hg38UCSC Ensembl
chr1:234343188..234346177hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382990
hg192990
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180488
Supporting Variants
SamplesHG00514
Known GenesSLC35F3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414436
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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