A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595415



Internal ID16382824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130062450..130125756hg38UCSC Ensembl
Innerchr4:130983605..131046911hg19UCSC Ensembl
Innerchr4:131203055..131266361hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3863307
hg1963307
hg1863307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1006484
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595415
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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