A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421193



Internal ID22159164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40834503..40834569hg38UCSC Ensembl
chr2:41061643..41061709hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174705
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421193
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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