A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434482



Internal ID22177481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46687276..46687339hg38UCSC Ensembl
chr22:47083173..47083236hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190924
Supporting Variants
SamplesHG00514
Known GenesCERK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434482
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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