A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456927



Internal ID22214296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48636113..48636417hg38UCSC Ensembl
chr4:48638130..48638434hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171829
Supporting Variants
SamplesHG00733
Known GenesFRYL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456927
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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