A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152912



Internal ID19203013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21209965..21215666hg38UCSC Ensembl
Outerchr12:21362899..21368600hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg385702
hg195702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997948
SamplesKWB1
Known GenesSLCO1B1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152912
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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