A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595690



Internal ID16036413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150867803..151188400hg38UCSC Ensembl
Innerchr4:151788955..152109552hg19UCSC Ensembl
Innerchr4:152008405..152329002hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38320598
hg19320598
hg18320598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1009404
Samples
Known GenesLRBA, RPS3A, SH3D19, SNORD73A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595690
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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