A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209808



Internal ID22357828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50252551..50259350hg38UCSC Ensembl
chr3:50289983..50296782hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5965n152
Supporting Variantsnssv14305100, nssv14305101, nssv14305105, nssv14305106, nssv14305104, nssv14305107, nssv14305102, nssv14305108, nssv14305103
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGNAI2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209808
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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