A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428445



Internal ID22169697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110251505..110256880hg38UCSC Ensembl
chr13:110903852..110909227hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385376
hg195376
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208571
Supporting Variants
SamplesHG00514
Known GenesCOL4A1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14428445
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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