A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462989



Internal ID22229148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181742912..181743007hg38UCSC Ensembl
chr3:181460700..181460795hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199391
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)nssv14462989
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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