A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287659



Internal ID22231384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11112786..11112849hg38UCSC Ensembl
chr2:11252912..11252975hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199976
Supporting Variants
SamplesHG00733
Known GenesFLJ33534
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287659
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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