A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120411



Internal ID19274495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39012986..39013065hg38UCSC Ensembl
Outerchr21:40384912..40384991hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962024
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120411
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