A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448489



Internal ID22243939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179065484..179066512hg38UCSC Ensembl
chr2:179930211..179931239hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189495
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448489
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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