A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594094



Internal ID16381503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:43203082..43252872hg38UCSC Ensembl
Innerchr4:43205099..43254889hg19UCSC Ensembl
Innerchr4:42899856..42949646hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3849791
hg1949791
hg1849791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv996873
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594094
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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