A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396308



Internal ID22301326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44306104..44306155hg38UCSC Ensembl
chr21:45725987..45726038hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206919
Supporting Variants
SamplesNA19240
Known GenesPFKL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14396308
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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