A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433466



Internal ID22176398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186134170..186215153hg38UCSC Ensembl
chr2:186998897..187079880hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3880984
hg1980984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209916
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)nssv14433466
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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