A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374715



Internal ID22327030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93876121..93878607hg38UCSC Ensembl
chr1:94341677..94344163hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382487
hg192487
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181384
Supporting Variants
SamplesNA19240
Known GenesDNTTIP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14374715
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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