A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426822



Internal ID22167376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43729338..43729338hg38UCSC Ensembl
chr6:43697075..43697075hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381397
hg191397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534198
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)nssv14426822
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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