A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410067



Internal ID22288646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17147464..17147526hg38UCSC Ensembl
chr22:17628354..17628416hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204593
Supporting Variants
SamplesNA19240
Known GenesCECR5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14410067
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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