A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399318



Internal ID22304471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48192631..48192681hg38UCSC Ensembl
chr1:48658303..48658353hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170964
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399318
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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