A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596234



Internal ID16036957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:174131900..174440286hg38UCSC Ensembl
Innerchr4:175053051..175361437hg19UCSC Ensembl
Innerchr4:175289626..175598012hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38308387
hg19308387
hg18308387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1016874
Samples
Known GenesCEP44, FBXO8, MIR4276
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596234
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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