A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199976



Internal ID22349491
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4483n152
Supporting Variantsnssv14287659, nssv14287658
SamplesHG00732, HG00733
Known GenesFLJ33534
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199976
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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