A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412853



Internal ID22148093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168231524..168231601hg38UCSC Ensembl
chr1:168200762..168200839hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178859
Supporting Variants
SamplesHG00514
Known GenesSFT2D2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14412853
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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