A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979233



Internal ID19233568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9690643..9690724hg38UCSC Ensembl
Outerchr11:9712190..9712271hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116669
Supporting Variants
SamplesKWS2
Known GenesSWAP70
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979233
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