A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463672



Internal ID22228847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199463339..199463408hg38UCSC Ensembl
chr2:200328062..200328131hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181389
Supporting Variants
SamplesHG00733
Known GenesSATB2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14463672
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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