A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413774



Internal ID22149109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:379971..379971hg38UCSC Ensembl
chr5:180865920..180865920hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385251
hg195251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531515
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413774
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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