A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594050



Internal ID16034773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40073122..40167804hg38UCSC Ensembl
Innerchr4:40074742..40169424hg19UCSC Ensembl
Innerchr4:39751137..39845819hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3894683
hg1994683
hg1894683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv996671
Samples
Known GenesN4BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594050
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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