A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223110



Internal ID22366977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51092092..51092609hg38UCSC Ensembl
chr12:51485875..51486392hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365444, nssv14365446, nssv14365445
SamplesNA19238, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223110
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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