A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211891



Internal ID22359301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122393911..122394512hg38UCSC Ensembl
chr12:122878458..122879059hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2027n152
Supporting Variantsnssv14365950, nssv14365949, nssv14365951
SamplesHG00731, HG00732, HG00733
Known GenesCLIP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211891
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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