A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441258



Internal ID22237678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55240234..55241861hg38UCSC Ensembl
chr1:55705907..55707534hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381628
hg191628
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186865
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)nssv14441258
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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