A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226817



Internal ID22369495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60436331..60437922hg38UCSC Ensembl
chr11:60203804..60205395hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381592
hg191592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14359000, nssv14359001, nssv14359624
SamplesHG00731, HG00732, HG00733
Known GenesMS4A5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226817
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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