A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402376



Internal ID22311448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124141836..124141906hg38UCSC Ensembl
chr8:125154077..125154147hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190717
Supporting Variants
SamplesNA19240
Known GenesFER1L6-AS2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14402376
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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