A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395721



Internal ID22297511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35735298..35741221hg38UCSC Ensembl
chr22:36131345..36137268hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385924
hg195924
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196994
Supporting Variants
SamplesNA19240
Known GenesRBFOX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395721
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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