A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224189



Internal ID22367695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132213118..132213279hg38UCSC Ensembl
chr12:132697663..132697824hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364587, nssv14364588, nssv14364586
SamplesHG00512, HG00513, HG00514
Known GenesGALNT9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224189
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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