A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110216



Internal ID19256249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132535914..132539214hg38UCSC Ensembl
Outerchr12:133112500..133115800hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959485
SamplesKWS1
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110216
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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