A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206887



Internal ID22355364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232905908..232906036hg38UCSC Ensembl
chr2:233770618..233770746hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299068
SamplesNA19238
Known GenesNGEF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206887
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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