A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133284



Internal ID19275740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:204163918..204164018hg38UCSC Ensembl
Outerchr2:205028641..205028741hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2131n106
Supporting Variantsnssv3988195
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133284
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