A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403088



Internal ID22311165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126294621..126294621hg38UCSC Ensembl
chr9:129056900..129056900hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550755
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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