A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133342



Internal ID19270391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:66214375..66240898hg38UCSC Ensembl
Outerchr4:67080093..67106616hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3826524
hg1926524
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988286
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133342
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