A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427616



Internal ID22168523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110478441..110482944hg38UCSC Ensembl
chr13:111130788..111135291hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384504
hg194504
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206903
Supporting Variants
SamplesHG00514
Known GenesCOL4A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14427616
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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