A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111077



Internal ID19249399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93500780..93501896hg38UCSC Ensembl
Outerchr12:93894556..93895672hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962282
SamplesKWS1
Known GenesMRPL42
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111077
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