A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424180



Internal ID22163466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52636087..52636219hg38UCSC Ensembl
chr1:53101759..53101891hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184788
Supporting Variants
SamplesHG00514
Known GenesFAM159A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424180
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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