A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227969



Internal ID22370296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96942476..96945038hg38UCSC Ensembl
chr12:97336254..97338816hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382563
hg192563
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365727, nssv14365729, nssv14365728, nssv14365725, nssv14365724, nssv14365721, nssv14365726, nssv14365722, nssv14365723
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNEDD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227969
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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