A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206551



Internal ID22355071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172315260..172321375hg38UCSC Ensembl
chr2:173179988..173186103hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386116
hg196116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4899n152
Supporting Variantsnssv14295571, nssv14295570, nssv14295568, nssv14295569, nssv14295572, nssv14295567
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206551
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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