A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141192



Internal ID18926756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47355549..47358749hg38UCSC Ensembl
Outerchr11:47377100..47380300hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992698
SamplesKWS2
Known GenesSPI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141192
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