A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449591



Internal ID22221714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:7657217..7657346hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38130
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197303
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)nssv14449591
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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