A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146320



Internal ID19196355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:25919387..25923688hg38UCSC Ensembl
Outerchr21:27291699..27296000hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg384302
hg194302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999523
SamplesKWB1
Known GenesAPP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146320
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