A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111069



Internal ID18914186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49878392..49880191hg38UCSC Ensembl
Outerchr12:50272175..50273974hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv816n106
Supporting Variantsnssv3962273
SamplesKWS1
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111069
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