A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208931



Internal ID22357084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233012370..233016738hg38UCSC Ensembl
chr2:233877080..233881448hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384369
hg194369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299088, nssv14299092, nssv14299089, nssv14299091, nssv14299095, nssv14299090, nssv14299093, nssv14299087, nssv14299094
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNGEF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208931
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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