A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403792



Internal ID22285929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133662248..133662248hg38UCSC Ensembl
chr9:136527370..136527370hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551838
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)nssv14403792
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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