A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414317



Internal ID22149717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4025166..4025370hg38UCSC Ensembl
chr11:4046396..4046600hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203223
Supporting Variants
SamplesHG00514
Known GenesSTIM1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414317
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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