A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147094



Internal ID19199767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8986605..9058567hg38UCSC Ensembl
Outerchr21:9825399..9897400hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3871963
hg1972002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998456
SamplesKWB1
Known GenesMIR3648, MIR3687
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147094
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer