A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211315



Internal ID22358911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73620587..73620733hg38UCSC Ensembl
chr12:74014367..74014513hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362067, nssv14362068, nssv14362069, nssv14362065, nssv14362066
SamplesHG00512, NA19239, HG00731, HG00732, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211315
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer