A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462573



Internal ID22214108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174735939..174735939hg38UCSC Ensembl
chr5:174162942..174162942hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381109
hg191109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538211
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14462573
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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