A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380943



Internal ID22314593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124675978..124676130hg38UCSC Ensembl
chr11:124545874..124546026hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207278
Supporting Variants
SamplesNA19240
Known GenesSIAE, SPA17
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380943
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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